ABSTRACT
OBJECTIVE@#To detect potential mutation of the ASPM gene in a Chinese pedigree affected with autosomal recessive primary microcephaly 5 (MCPH5).@*METHODS@#Peripheral venous blood samples were collected from the proband and her parents. Amniotic fluid sample was also collected upon her mother' s subsequent pregnancy. Following extraction of genomic DNA, PCR and Sanger sequencing were carried out to identify potential variants of the ASPM gene.@*RESULTS@#The proband was found to harbor compound heterozygous variants of the ASPM gene, namely c.8214dupT (p.Q2739fs) in exon 18 and c.9541C>T (p.R3181X) in exon 23, which were respectively inherited from her father and mother. The fetus has found to have inherited the c.9541C>T (p.R3181X) variant only.@*CONCLUSION@#The c.8214dupT (p.Q2739fs) and c.9541C>T (p.R3181X) compound heterozygous variants of the ASPM gene probably underlay the pathogenesis of MCPH5 in this patient. Above finding has enabled genetic counseling and prenatal diagnosis for her family.
Subject(s)
Female , Humans , Pregnancy , China , Counseling , Microcephaly , Mutation , Nerve Tissue Proteins/genetics , PedigreeABSTRACT
OBJECTIVE@#To explore the genetic basis for a fetus featuring infantile polycystic kidney disease (IPKD).@*METHODS@#Following elective abortion, fetal tissue and peripheral blood samples of its parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out to detect potential variants correlated with the phenotype.@*RESULTS@#The fetus was found to harbor a heterozygous c.1370C>T (p.P457L) variant of the HNF1B gene, which was unreported previously. The same variant was not detected in either parent.@*CONCLUSION@#The heterozygous c.1370C>T (p.P457L) variant of the HNF1B gene probably underlay the IPKD in this fetus. Above finding has enabled genetic counseling and prenatal diagnosis for the family.
Subject(s)
Female , Humans , Pregnancy , Fetus , Hepatocyte Nuclear Factor 1-beta/genetics , Mutation , Phenotype , Polycystic Kidney, Autosomal Recessive , Prenatal Diagnosis , Exome SequencingABSTRACT
OBJECTIVE@#To retrospectively analyze non-invasive prenatal screening (NIPS) data from two centers.@*METHODS@#The NIPS results of 10 840 samples were analyzed, including 21/18/13 trisomies (T21/T18/T13), sex chromosome and other autosomal aneuploidies, and copy number variants (CNVs). The maternal age, gestational week, body mass index and concentration of free fetal DNA (cffDNA) were also analyzed.@*RESULTS@#The average gestational age of the 10 840 pregnant women was (32.34±5.04) year old, and the average gestational week for NIPS was (17.60±3.55) week. The overall false positive rate for T21/T18/T13 was 0.11%, sensitivity was 100%, specificity was 99.89%, and positive predictive value was 81.5%. The positive predictive values for sex chromosome and other autosomal aneuploidies and CNVs were 56.67%, 11.76% and 83.33%, respectively. The incidence of T21/T18 in the elder women (35 years or elder) was 2.12 times(P 0.05) that of young women. cffDNA was in proportion to gestational week (r = 0.207) and in inverse proportion to body mass index (r = -0.177). It has increased slowly before 15 weeks of gestation and thereafter at a rate of 0.5% per week after the 16th week.@*CONCLUSION@#The performance of NIPS in this study is by large close to the reported in the literature, and the results can provide a reference for further study.
ABSTRACT
OBJECTIVE@#To provide prenatal diagnosis for a pregnant women carrying a chromosome translocations using single nucleotide polymorphism array (SNP-array).@*METHODS@#The fetus and its parents were subjected to chromosome karyotyping and SNP array analysis.@*RESULTS@#A Xp22.12 microduplication was identified in the fetus with a size of 496.3 kb. Search of literature and database indicated the microduplication to be variant of unclear significance. The phenotypically normal mother has carried a 505.8 kb duplication at the same position. The father was normal for the testing. The couple decided to continue with the pregnancy and gave birth to a healthy girl at full-term. No abnormality was found during the follow-up.@*CONCLUSION@#The Xp22.12 microduplication encompassed part of RPS6KA3 gene, which shows various features of Coffin-Lowry syndrome. Female with Xp22.12 microduplications may be asymptomatic carriers due to X chromosome inactivation. Our case may provide data for delineating the phenotype-genotype correlation of Xp22.12 microduplication.
ABSTRACT
Objective To discuss the clinical characteristics and prognosis of lipoprotein glomerulopathy (LPG) in chil-dren. Method Clinical data of one pediatric LPG patient were retrospectively analyzed. The clinical features and prognosis of childhood LPG were summarized based on literature review. Results A nine years old girl presented with frequent urination. The ifrst urine test revealed hematuria and proteinuria. After one week anti-infection treatment, the hematuria and proteinuria were continued. The serum albumin was slightly reduced. The hyperlipidemia and mild anemia were emerged. Kidney biopsy showed that enlarged glomeruli, with dilated capillary loops and weak eosinophilic lipoprotein thrombi in the capillary lumina under the light microscope;layered or tuftedemboluscontaining particulated lipid vacuoles under electron microscope. Gene sequencing identified APOE Tokyo (Leu141-Lys143→0). The diagnosis of LPG was confirmed. The lipid-lowering therapy was administrated and the disease was alleviated. Conclusion LPG is a rare disease in children. The level of blood lipid was signiifcantly increased, and the hormone therapy was ineffective. Kidney biopsy is the main basis for diagnosis. The genetic testing can prompt the genetic background. Lipid lowering therapy can relieve the progress of the disease.
ABSTRACT
BACKGROUND:The preparation of recombinant human epidermal growth factor (rhEGF) and basic fibroblast growth factor (bFGF) has been clinical y used in the repair of ocular surface trauma. However, the concentration of these growth factors that achieve the maximal healing effect and the comparison of two kinds of growth factors on promoting wound healing are stil controversial. OBJECTIVE:To investigate the effect of rhEGF and bFGF on the cloning of human corneal epithelial cells. METHODS:The human corneal epithelial cells cultured in vitro were interfered with rhEGF and bFGF under different concentrations. The proliferation of human corneal epithelial cells was detected using MTT assay after 3, 5, 7 days of growth factors treatment. Plate clone formation assay was applied to observe the morphology of cellclone and analyze clone formation rate of human corneal epithelial cells. RESULTS and CONCLUSION:MTT value shows that 10μg/L rhEGF and 10μg/L bFGF on day 5 were the most powerful concentration. The clone formation rate of human corneal epithelial cells after treated with 10μg/L rhEGF was higher than that with 10μg/L bFGF (P=0.02). The results confirmed that both rhEGF and bFGF could promote the proliferation and increase clone formation ability of human corneal epithelial cells. 10μg/L rhEGF for 5 days achieves the best effect on promoting clone formation of human corneal epithelium cells.