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1.
Article in Chinese | WPRIM | ID: wpr-907811

ABSTRACT

Objective:To estimate and analyze the occurrence of post-thyroidectomy syndrome (PTS) following endoscopic thyroidectomy via areola approach (ETAA) vs open thyroidectomy (OT) .Methods:Data of 903 consecutive cases, aged from 20 to 66 with 231 males and 672 females, in Department of General Surgery, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, from Jan. 2016 to Dec. 2017 were analyzed retrospectively. They were enrolled according to the same criteria. Based on different procedures, the cases were divided into ETAA group (n=162) and OT group (n=741) . Intraoperative procedure was according to unified principle. Drainage tube was removed if 24-hour drainage volume was less than 20 ml. Following-up was implemented by telephone or outpatient clinic. Data of 2 groups of 5 PTS items during 1 m, 3 m, 6 m and 1 y postoperatively and the scores of the medical outcomes study short form 36-item health survey (SF-36) V2 were analyzed by independent sample t test and repeated measures analysis of variance. Results:The patients of 2 groups were all followed up for more than 1 y with 43 cases censored (4.8%) . Demographic data of the rest of 2 groups were not different statistically ( P>0.05) . Median of every phase scores of the 5 items of PTS were 0 to 1. Scores of the 5 items were decreased gradually in accordance with time factor ( P=0.000) . The scores of peculiar feeling at the surgical site and discomfort in neck were different statistically during 1 m and 3 m postoperatively ( P=0.000) . Incidence of peculiar feeling at the surgical site in 1 m and 3 m postoperatively in ETAA group (54, 38.8% and 8, 5.8%) was higher than that in OT group (153, 21.2% and 20, 2.8%) . However, incidence of discomfort in neck in ETAA group (14, 10.1% and 0) was lower than in OT group (194, 26.9% and 53, 7.4%) . The other 3 items at all phases were not different statistically ( P>0.05) . The SF-36 V2 scores at 1 y postoperatively of 2 groups were not different statistically ( P=0.458) . Conclusions:PTS is a common symptom after OT or ETAA. It is frequent within early phase after thyroidectomy and is decreased significantly within 6 m. Peculiar feeling at the surgical site occurs less in OT than in ETAA in early postoperative phase and discomfort in neck occurs more, conversely.

2.
Article in Chinese | WPRIM | ID: wpr-826545

ABSTRACT

OBJECTIVE@#To identify pathogenic variants in two families with patients suspected for Joubert syndrome(UBST) by cerebellar vermis hypoplasia.@*METHODS@#Clinical data and peripheral venous blood and skin tissue samples were collected for the extraction of genomic DNA. Potential variants were screened by using targeted capture and next generation sequencing. Suspected variants were validated by PCR and Sanger sequencing. The frequency of the variants in the population was calculated. Pathogenicity of the variants was predicted by following the guidelines of the American College of Medical Genetics and Genomics (ACMG). Prenatal diagnosis was provided to these families upon subsequent pregnancy.@*RESULTS@#The proband of family 1 was found to harbor homozygous c.2072delT (p.F691S*fs19) frameshift variant of the AHI1 gene, which may cause premature termination of translation of the Abelson helper integration site 1 after the 691st amino acid. The proband of family 2 was found to harbor compound heterozygous variants of the CPLANE1 gene, namely c.7243dupA (p.T2415Nfs*7) and c.8001delG (p.K2667Nfs*31), which can respectively lead to premature termination of translation of ciliogenesis and planar polarity effector 1 after the 2145th and 2667th amino acids. All of the three variants were previously unreported, and were predicted to be pathogenic by bioinformatic analysis.@*CONCLUSION@#The AHI1 c.2072delT and CPLANE1 c.7243dupA and c.8001delG variants probably underlay JBTS3 in family 1 and JBTS17 in family 2, respectively. Based on above results, prenatal diagnosis may be offered to the affected families upon their subsequent pregnancies.


Subject(s)
Abnormalities, Multiple , Diagnosis , Genetics , Adaptor Proteins, Vesicular Transport , Genetics , Cerebellum , Congenital Abnormalities , Eye Abnormalities , Diagnosis , Genetics , Female , Genetic Testing , Genetic Variation , Humans , Kidney Diseases, Cystic , Diagnosis , Genetics , Membrane Proteins , Genetics , Mutation , Pregnancy , Prenatal Diagnosis , Retina , Congenital Abnormalities
3.
Article in Chinese | WPRIM | ID: wpr-826533

ABSTRACT

OBJECTIVE@#To carry out genetic analysis for a family with a fetus manifesting bilateral polycystic renal dysplasia and oligohydramnios at 16 gestational week and a previous history for fetal renal anomaly.@*METHODS@#Ultrasound scan was carried out to detect the morphological changes. Following genetic counselling, the parents had decided to terminate the pregnancy. Fetal kidneys were subjected to histological examination. Target capture and next generation sequencing (NGS) was applied to the abortus to detect potential variants. The results were verified by Sanger sequencing.@*RESULTS@#Histological examination of fetal kidneys revealed cystic changes without cortex, medulla or normal renal structure. NGS has identified a heterozygous c.100+1G>A variant and deletion of exon 3 of the INVS gene, which were respectively inherited from the mother and father.@*CONCLUSION@#Through NGS and Sanger sequencing, the fetus was diagnosed with type II nephronophthisis (NPHP2). Above result can provide guidance for further pregnancy and enforce understanding of clinical features and genetic etiologies for NPHP.


Subject(s)
Female , Fetus , Genetic Testing , Heterozygote , Humans , Mutation , Polycystic Kidney, Autosomal Dominant , Diagnostic Imaging , Genetics , Pregnancy , Sequence Deletion , Genetics , Transcription Factors , Genetics , Ultrasonography
4.
Article in Chinese | WPRIM | ID: wpr-871043

ABSTRACT

Objective:To analyze the variations of SGCA gene in two Chinese pedigrees of Han nationality with limb-girdle muscular dystrophy type 2D (LGMD2D) and provide prenatal diagnosis and genetic counseling for subsequent pregnancies within the pedigrees. Methods:This study involved two unrelated patients who were the probands of their pedigrees diagnosed with LGMD2D in the First Affiliated Hospital of Zhengzhou University from June 2017 to January 2018. Genomic DNA was extracted from peripheral blood samples of the probands and their parents. Coding sequences and flanking sequences of 21 LGMD-related genes from the probands were captured and subjected to high-throughput sequencing. Suspected mutations in their parents were detected and validated by Sanger sequencing and/or fluorescence quantitative polymerase chain reaction (PCR). Prenatal genetic diagnosis for high-risk fetuses in the two pedigrees was performed after the causative factors being identified.Results:(1) The proband of pedigree 1 carried compound heterozygous point mutations in SGCA gene with c.218C>G(p.P73R) and c.101G>A(p.R34H) inherited from his father and mother, respectively. Prenatal diagnosis indicated that the second fetus of the family carried the same mutations as the proband, and the family chose to terminate the gestation. (2) The proband of pedigree 2 inherited the compound heterozygous mutations of c.218C>T (p.P73L) and heterozygous deletion of exons 7 and 8 in SGCA gene from his parents. Their second fetus did not carry any of the above mutations and was delivered at full term. Serum creatinase level and physical, motor and mental development of the child were all within the normal range during a two-year follow-up after birth. Conclusions:The heterozygous mutations in SGCA gene are the cause of LGMD2D in the two pedigrees, and c.218C>G(p.P73R) and c.218C>T(p.P73L) are novel mutations. Genetic and prenatal diagnosis based on high-throughput targeted next-generation sequencing can rapidly and accurately detect the mutations responsible for LGMD2D.

5.
Chinese Journal of Radiology ; (12): 934-940, 2020.
Article in Chinese | WPRIM | ID: wpr-868367

ABSTRACT

Objective:To explore the prognostic value of quantitative plaque analysis and coronary CT angiography (CCTA) derived fractional flow reserve (CT-FFR) in evaluating plaque progression (PP).Methods:A total of 118 consecutive patients who underwent serial CCTA examinations in Affiliated Hospital of Jiangnan University from December 2013 to December 2017 were retrospectively enrolled. There were 37 patients in the PP group and 81 patients in the non-PP group. All patients′ CCTA images were quantitatively analyzed using plaque analysis software. The quantitative analysis parameters included stenosis degree, plaque length, total plaque volume, calcified plaque volume, non-calcified plaque volume, minimum lumen area, remodeling index(RI) and plaque burden. Plaque progression was defined as plaque burden change rate>1%. CT-FFR analysis was performed using cFFR software and the CT-FFR value was measured at 2-4 cm distal to the coronary lesion. Baseline parameters between the two groups were evaluated using Students t-test, U-test, chi-square test. The logistic regression model was conducted to evaluate the relationship between CCTA derived parameters and PP. Receiver operating characteristic curve analysis with the areas under the curve (AUC) was used to determine the predictive performance of different CCTA parameters. Results:Compared with the non-PP group, the patients were older( t=2.391, P=0.018), the prevalence of hyperlipidemia was higher(χ2=4.550, P=0.033), and the proportion of statins use was lower (χ2=4.764, P=0.029) in the PP group. The PP group showed greater coronary stenosis, smaller minimum lumen area, larger plaque volume and non-calcified plaque volume, larger remodeling index and lower CT-FFR value on baseline CCTA (all P<0.05). Logistic regression analysis demonstrated that RI(OR=2.714, 95%CI:1.078-6.836)and CT-FFR (OR=2.940, 95%CI:1.215-7.116) were independent predictors of PP. The model based on CCTA stenosis degree, quantitative plaque features and CT-FFR (AUC 0.83, 95%CI: 0.75-0.90; P<0.001) was significantly better than the model based on CCTA stenosis degree (AUC 0.62, 95%CI: 0.52-0.70, P=0.049) and the model based on CCTA stenosis degree and quantitative plaque characteristics (AUC 0.77, 95%CI: 0.68-0.84, P<0.001). Conclusions:Compared with the prediction model derived on stenosis degree, plaque quantitative markers and CT-FFR can improve the prediction value of PP.RI and CT-FFR were important predictors of PP.

6.
International Journal of Surgery ; (12): 658-661, 2020.
Article in Chinese | WPRIM | ID: wpr-863398

ABSTRACT

Objective:To summarize the experience of laparoscopic transabdominal preperitoneal hernia repair (TAPP) and to discuss its safety and feasibility.Methods:Data of 26 consecutive cases from January 2015 to March 2018 in Ruijin Hospital, Shanghai Jiao Tong University School of Medicine were analyzed retrospectively. They were all males, aged (68.3±14.1) years, with a range from 57 to 86 years. Body mass index was (23.3±4.1) kg/m 2. Bathel indexwas 91.4±5.6. Intraoperative main procedures were done in accordance to Guideline of Standardized Operation for Laparoscopic Inguinal Hernia Repair. A drainage tube or catheter was not routinely placed intraoperatively. Patients were discharged but for any complaints. Observation data included intraoperative, postoperative and following-up data. The following-up period was more than 12 months by telephone or clinic. The long-term complications and the changes of Barthel index were observed. Paired sample t test was used to compare the changes of Barthel index before and after operation. Results:Of the 26 cases, none was converted to open procedure and no intra- or post-operative serious complications occurred. Occurrence of surgical site seroma was 17 (65.4%) cases. The operating time was (76.5±23.6) min. Intraoperative blood loss was (8.6±4.4) mL. The postoperative hospitalization was (2.3±1.2) d. Bathel index in 1 month postoperative was 96.9±3.2. It was higher statistically than that preoperative ( t=-6.968, P=0.000). Conclusions:TAPP in the treatment of huge inguinoscrotal hernia is safe and feasible. Mastering the anatomical characteristics and the according procedures is an important factor for successful operation.

7.
Article in Chinese | WPRIM | ID: wpr-828316

ABSTRACT

OBJECTIVE@#To explore the genetic etiology of three pedigrees with a gestational history of fetal renal anomalies.@*METHODS@#Peripheral venous blood or skin samples were derived from the probands of the three pedigrees. Copy number variation sequencing (CNV-seq) was applied to detect alterations of genome CNVs.@*RESULTS@#The patient from pedigree 1 and the fetuses from pedigrees 2 and 3 all carried a heterozygous 17q12 deletion, with the size ranging from 1.4 Mb to 1.48 Mb encompassing the HNF1B gene.@*CONCLUSION@#The diagnosis of 17q12 microdeletion may be difficult during fetal period for its variable phenotypes. Alterations of chromosomal copy numbers need to be excluded in such patients.


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 17 , Genetics , DNA Copy Number Variations , Fetus , Genetic Testing , Hepatocyte Nuclear Factor 1-beta , Genetics , Humans , Pedigree , Phenotype
8.
Article in Chinese | WPRIM | ID: wpr-753478

ABSTRACT

This paper aims to explore a new way to cultivate college students' autonomous learning ability by taking the flipped classroom teaching of molecular medicine in medical colleges as an example. In view of the specific teaching content and characteristics of molecular medicine, we formulated a mixed teaching plan based on flipped classroom. By setting the teaching objectives and tasks beforehand, students were guided to explore and acquire knowledge independently from the abundant teaching resources library. In order to test the effect of students' autonomous learning and expand the cultivation of students' ability of information collection and processing, inquiry initiation, and communication and cooperation, we launched classroom discussions, communications, questions answering and group collaborative research topic-based reports. Through the reform of teaching assessment system, students' autonomous learning status can be effectively monitored to help ensure the implementation of the flipped classroom.

9.
Article in Chinese | WPRIM | ID: wpr-781328

ABSTRACT

OBJECTIVE@#The phenotype and genetics of three patients with autosomal recessive polycystic kidney disease (ARPKD) at childhood, teenage and advanced age were analyzed.@*METHODS@#Next generation sequencing (NGS) was applied to all the probands. PCR and Sanger sequencing were used to verify the suspicious gene variants screened by NGS in the probands and their family members, and one of the family got prenatal diagnosis.@*RESULTS@#Through NGS, PCR and Sanger sequencing, the 5-yr proband in pedigree 1 was shown to carry compound heterozygous variants of c.5935G>A(p.G1979R) and c.5428G>T(p.E1810X) of PKHD1, originated from his parents; In pedigree 2, the 17-ys proband was detected with c.5512T>C(p.Y1838H) and c.5935G>A(p.G1979R) variants of PKHD1 orginated from her parents, and her mother also got prenatal diagnosis during the second trimester; In pedigree 3, the 70-ys female proband was found with variants c.11314C>T (p.R3772X) and c.3860T>G (p.V1287G) of PKHD1.@*CONCLUSION@#The three pedigrees were diagnosed as ARPKD caused by PKHD1 variants. Five types of variants were detected, c.5935G>A and c.11314C>T were the known pathogenic variants, while c.5512T>C, c.5428G>T and c.3860T>G were not reported previously. Considering the complexity of the genetics and phenotypes of the cystic renal diseases, genetic diagnosis is crucial to give accurate etiological diagnosis, which may benefit the clinic management.


Subject(s)
Adolescent , Aged , Child, Preschool , Female , Humans , Male , Mutation , Phenotype , Polycystic Kidney, Autosomal Recessive , Genetics , Pregnancy , Receptors, Cell Surface , Genetics
10.
Article in Chinese | WPRIM | ID: wpr-781322

ABSTRACT

OBJECTIVE@#To analyze variants of RUNX2 gene in two pedigrees affected with cleidocranial dysplasia and provide prenatal diagnosis for them.@*METHODS@#For the two probands, the coding sequences of the RUNX2 gene were analyzed with PCR and bidirectional Sanger sequencing. To verify the results, peripheral blood samples were collected from their parents and 100 healthy controls. For family 1, umbilical cord blood was also collected for prenatal genetic diagnosis.@*RESULTS@#In family 1, the proband and the fetus both carried a heterozygous c.578G>C (p.Arg193Pro) mutation. For family 2, the proband was found to carry a heterozygous c.909C>A (p.Tyr303X) mutation. The same mutations were not found among their parents and 100 healthy controls. Neither mutation was reported previously.@*CONCLUSION@#Variants of the RUNX2 gene probably underlie the cleidocranial dysplasia in both pedigrees. The results enabled prenatal diagnosis for the affected family.


Subject(s)
Cleidocranial Dysplasia , Diagnosis , Genetics , Core Binding Factor Alpha 1 Subunit , Genetics , Exons , Female , Humans , Mutation , Pedigree , Pregnancy , Prenatal Diagnosis
11.
Article in Chinese | WPRIM | ID: wpr-776805

ABSTRACT

OBJECTIVE@#To explore the genetic etiology for a pedigree affected with progressive familial intrahepatic cholestasis (PFIC).@*METHODS@#Target sequence capture and next generation sequencing (NGS) were applied for the proband. PCR and Sanger sequencing were used to verify the suspected mutation in his sister with similar symptoms and his parents.@*RESULTS@#The proband and his sister manifested after birth with symptoms including jaundice, pruritus and developmental retardation. NGS has identified compound heterozygous mutations of ABCB11 gene, which encodes bile salt export pump protein (BSEP), namely c.2494C>T (p.Arg832Cys) and c.3223C>T (p.Gln1075*), in the proband, which were inherited from his father and mother respectively. His sister carried the same compound mutations.@*CONCLUSION@#Based on the phenotype and genetic testing, the patients were diagnosed as PFIC2 caused by mutation of the ABCB11 gene. The c.3223C>T is a novel nonsense mutation which may cause premature termination of translation. Above results have enriched the spectrum of ABCB11 mutations and provided new evidence for the molecular basis of PFIC, which also facilitated genetic counseling for this pedigree.


Subject(s)
ATP Binding Cassette Transporter, Subfamily B, Member 11 , Genetics , ATP-Binding Cassette Transporters , Cholestasis, Intrahepatic , Genetics , Female , Genetic Testing , Humans , Male , Mutation , Pedigree , Phenotype
12.
Article in Chinese | WPRIM | ID: wpr-776750

ABSTRACT

OBJECTIVE@#To carry out genetic testing for a family with two pregnancies affected with hydrops fetalis and dilated cardiomyopathy (DCM) of the fetus.@*METHODS@#DNA was extracted from fetal tissue as well as peripheral blood samples from the couple. Single nucleotide polymorphism array (SNP array) and next-generation sequencing (NGS) were carried out to screen potential mutation. Suspected mutation was validated with PCR and Sanger sequencing.@*RESULTS@#The manifestation of fetal echocardiography was consistent with DCM. No obvious abnormality was found by SNP array analysis. A hemizygous c.481G>A (p.G161R) mutation of the TAZ gene was detected in the male fetus by NGS and confirmed by Sanger sequencing. The mutation was inherited from his mother.@*CONCLUSION@#Barth syndrome due to the c.481G>A mutation of the TAZ gene probably underlies the recurrent hydrops fetalis and fetal DCM in this family.


Subject(s)
Barth Syndrome , Genetics , Cardiomyopathy, Dilated , Genetics , Echocardiography , Female , Genetic Testing , High-Throughput Nucleotide Sequencing , Humans , Hydrops Fetalis , Genetics , Male , Mutation , Pregnancy , Transcription Factors , Genetics
13.
Article in Chinese | WPRIM | ID: wpr-775803

ABSTRACT

OBJECTIVE@#Genetic screening and prenatal diagnosis was performed in eighteen families with high risk of 21-hydroxylase deficiency (21-OHD) to provide valuable information for genetic counseling in these affected families.@*METHODS@#First, multiplex ligation-dependent probe amplification (MLPA) combined with nested-PCR based Sanger sequencing was used to detect CYP21A2 gene mutations in probands and their parents of eighteen families, with seven probands had been dead. Second, paternity test was applied to exclude the possibility of maternal genomic DNA contamination, and fetal prenatal diagnosis is based on the mutations found in proband or parents of the family.@*RESULTS@#Ten mutations were identified in these eighteen families, including large fragment deletion, I2G, E3del8bp, I172N, V281L, E6 cluster, L307Ffs, Q318X, R356W and R484Pfs. All probands were caused by homozygous or compound heterozygous mutations of CYP21A2 gene and their parents were carriers. By comparing short tandem repeat sites contamination of maternal genomic DNA was not found in fetal DNA. Prenatal diagnosis showed that five fetus were 21-OHD patients, four fetus were carriers and the other nine fetus were normal.@*CONCLUSION@#CYP21A2 gene mutation is the etiology of 21-OHD. Genetic testing of CYP21A2 could assist physicians in 21-OHD diagnosis and provided genetic counseling and prenatal diagnosis for parents who are at risk for having a child with congenital adrenal hyperplasia.


Subject(s)
Adrenal Hyperplasia, Congenital , Diagnosis , Genetics , Female , Genetic Testing , Humans , Mutation , Pregnancy , Prenatal Diagnosis , Steroid 21-Hydroxylase
14.
Article in Chinese | WPRIM | ID: wpr-775791

ABSTRACT

OBJECTIVE@#To explore the clinical features and genetic diagnosis of two cases with rare diseases and X chromosome abnormalities.@*METHODS@#Multiple ligation-dependent probe amplification (MLPA) and karyotype analysis were carried out on an 8-year-old girl who was diagnosed with Duchenne muscular dystrophy. Karyotype analysis and PCR assay for SRY and AZF genes were carried out for a-2-month-old male infant with short penis.@*RESULTS@#The girl, who featured short stature and cubitus valgus, was diagnosed as Turner syndrome with a karyotype of 46,X,i(Xq). The male infant was detected with a karyotype of 45,X, with presence of SRY gene but absence of AZF gene.@*CONCLUSION@#Both cases may be associated with abnormalities of X chromosome. Genetic testing can facilitate early diagnosis and clinical intervention for such patients.


Subject(s)
Chromosomes, Human, X , Humans , Infant , Karyotyping , Male , Muscular Dystrophy, Duchenne , Genetics , Rare Diseases , Turner Syndrome , Genetics
15.
Article in Chinese | WPRIM | ID: wpr-775761

ABSTRACT

OBJECTIVE@#To identify the pathogenic mutation underlying retinitis pigmentosa in a large pedigree.@*METHODS@#The pedigree has included three generations showing an autosomal dominant transmission of retinitis pigmentosa. Potential mutations were screened using a retinitis pigmentosa gene panel and an Ion PGM platform. Suspected mutation was verified by Sanger sequencing.@*RESULTS@#A novel heterozygous missense mutation, c.251T>C(p.Leu84Pro), was identified in the RHO gene. The mutation has co-segregated with the retinitis pigmentosa phenotype among all family members and was not found in public databases ExAC, 1000G and dbSNP or 831 healthy controls. The mutation was predicted to be damaging by three major protein-predicting software.@*CONCLUSION@#The c.251T>C (p.Leu84Pro) mutation of the RHO gene is a novel pathogenic mutation underlying the retinitis pigmentosa phenotype in this pedigree. Above findings have enabled prenatal diagnosis for the pedigree.


Subject(s)
DNA Mutational Analysis , Eye Proteins , Humans , Mutation , Mutation, Missense , Pedigree , Phenotype , Retinitis Pigmentosa , Genetics
16.
Article in Chinese | WPRIM | ID: wpr-772021

ABSTRACT

OBJECTIVE@#To identify genetic mutations among patients with hearing loss but without common GJB2, SLC26A4, 12 SrRNA mutations.@*METHODS@#Thirty-three patients were subjected to next-generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing.@*RESULTS@#Four patients were found to harbor previously known pathogenic variations, and four were found to carry suspicious pathogenic variations, which yielded a detection rate of 24.2%.@*CONCLUSION@#NGS can improve the detection rate for mutations underlying congenital hearing loss and improve the efficiency and accuracy of the diagnosis.


Subject(s)
Connexins , Deafness , Hearing Loss, Sensorineural , High-Throughput Nucleotide Sequencing , Humans , Membrane Transport Proteins , Mutation , Sulfate Transporters
17.
Article in Chinese | WPRIM | ID: wpr-771992

ABSTRACT

OBJECTIVE@#To detect EXT1 and EXT2 gene mutations in two pedigrees affected with hereditary multiple exostosis (HME).@*METHODS@#The coding regions and exon/intron boundaries of the EXT1 and EXT2 genes were analyzed by targeted next-generation sequencing (NGS). Suspected mutations were confirmed by Sanger sequencing of the probands, their family members and 200 unrelated healthy controls. Gross deletion was confirmed by quantitative PCR (qPCR) analysis and multiple ligation-dependent probe amplification (MLPA) analysis.@*RESULTS@#Two mutations were detected in the pedigrees, which included EXT2 gene c.337_338insG mutation in pedigree 1 and deletion of entire EXT1 in pedigree 2. Analysis of sequencing data revealed that a novel heterozygous mutation (c.337_338insG) in EXT2 gene in proband 1 and his father. The same mutation was not found among healthy family members and 200 unrelated healthy controls. As shown by NGS and MLPA analysis, proband 2 carried a heterozygous deletion of entire EXT1 gene. The same deletion was also found in her mother by qPCR.@*CONCLUSION@#Mutations of the EXT1 and EXT2 genes probably underlie the HME in both pedigrees. NGS combined with Sanger sequencing, qPCR and MLPA is effective for attaining the diagnosis.


Subject(s)
DNA Mutational Analysis , Exostoses, Multiple Hereditary , Genetics , Female , Humans , Mutation , N-Acetylglucosaminyltransferases , Genetics , Pedigree
18.
Article in Chinese | WPRIM | ID: wpr-799971

ABSTRACT

Objective@#To analyze variants of RUNX2 gene in two pedigrees affected with cleidocranial dysplasia and provide prenatal diagnosis for them.@*Methods@#For the two probands, the coding sequences of the RUNX2 gene were analyzed with PCR and bidirectional Sanger sequencing. To verify the results, peripheral blood samples were collected from their parents and 100 healthy controls. For family 1, umbilical cord blood was also collected for prenatal genetic diagnosis.@*Results@#In family 1, the proband and the fetus both carried a heterozygous c. 578G>C (p.Arg193Pro) mutation. For family 2, the proband was found to carry a heterozygous c. 909C>A (p.Tyr303X) mutation. The same mutations were not found among their parents and 100 healthy controls. Neither mutation was reported previously.@*Conclusion@#Variants of the RUNX2 gene probably underlie the cleidocranial dysplasia in both pedigrees. The results enabled prenatal diagnosis for the affected family.

19.
Article in Chinese | WPRIM | ID: wpr-799965

ABSTRACT

Objective@#The phenotype and genetics of three patients with autosomal recessive polycystic kidney disease (ARPKD) at childhood, teenage and advanced age were analyzed.@*Methods@#Next generation sequencing (NGS) was applied to all the probands. PCR and Sanger sequencing were used to verify the suspicious gene variants screened by NGS in the probands and their family members, and one of the family got prenatal diagnosis.@*Results@#Through NGS, PCR and Sanger sequencing, the 5-yr proband in pedigree 1 was shown to carry compound heterozygous variants of c. 5935G>A(p.G1979R) and c. 5428G>T(p.E1810X) of PKHD1, originated from his parents; In pedigree 2, the 17-ys proband was detected with c. 5512T>C(p.Y1838H) and c. 5935G>A(p.G1979R) variants of PKHD1 orginated from her parents, and her mother also got prenatal diagnosis during the second trimester; In pedigree 3, the 70-ys female proband was found with variants c. 11314C>T (p.R3772X) and c. 3860T>G (p.V1287G) of PKHD1.@*Conclusion@#The three pedigrees were diagnosed as ARPKD caused by PKHD1 variants. Five types of variants were detected, c. 5935G>A and c. 11314C>T were the known pathogenic variants, while c. 5512T>C, c. 5428G>T and c. 3860T>G were not reported previously. Considering the complexity of the genetics and phenotypes of the cystic renal diseases, genetic diagnosis is crucial to give accurate etiological diagnosis, which may benefit the clinic management.

20.
Article in Chinese | WPRIM | ID: wpr-796474

ABSTRACT

Objective@#To carry out genetic testing for a family with two pregnancies affected with hydrops fetalis and dilated cardiomyopathy (DCM) of the fetus.@*Methods@#DNA was extracted from fetal tissue as well as peripheral blood samples from the couple. Single nucleotide polymorphism array (SNP array) and next-generation sequencing (NGS) were carried out to screen potential mutation. Suspected mutation was validated with PCR and Sanger sequencing.@*Results@#The manifestation of fetal echocardiography was consistent with DCM. No obvious abnormality was found by SNP array analysis. A hemizygous c. 481G>A (p.G161R) mutation of the TAZ gene was detected in the male fetus by NGS and confirmed by Sanger sequencing. The mutation was inherited from his mother.@*Conclusion@#Barth syndrome due to the c. 481G>A mutation of the TAZ gene probably underlies the recurrent hydrops fetalis and fetal DCM in this family.

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