ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child with clinically suspected nephronophthisis (NPHP).@*METHODS@#Peripheral blood samples of the patient and her parents were collected subjected to high-throughput sequencing. Sanger sequencing was used to verify the gene variants.@*RESULTS@#The patient, a 7-year-old girl with congenital blindness, was admitted to a local hospital due to repeated vomiting for 7-8 days and then transferred to author's hospital due to renal failure. Her urine occult bloods (3+) and urine protein (1+) were abnormal. Her blood urea nitrogen and creatinine showed a significant progressive increase. Renal ultrasound showed a mild enlargement in bilateral renal, increased echogenicity, loss of corticomedullary differentiation, and the presence of cysts in both kidneys. No familial genetic history was found in the family of patient and the child was clinically diagnosed with nephronophthisis. The proband was found to harbor compound heterozygous variants of the CEP290 gene, namely c.2587-2A>T and c.2251C>T, which were inherited from her mother and father, respectively. Based on the ACMG guidelines, both variants were predicted to be pathogenic.@*CONCLUSION@#The patient was diagnosed with NPHP type 6 due to variants of the CEP290 gene. Above finding has provided new evidence for the genotype-phenotype correlation of this disease.
ABSTRACT
OBJECTIVE@#To explore the genetic basis of a child with congenital heart disease (CHD).@*METHODS@#Clinical examination of the child was carried out. Chromosomal microarray analysis (CMA) and quantitative PCR were carried out to detect copy number variations.@*RESULTS@#The major features of the child included CHD (ventricular septal defect, severe pulmonary hypertension, tricuspid regurgitation, patent ductus arteriosus, and patent foramen ovale), severe pneumonia and liver failure. A de novo 3.2 Mb deletion encompassing 25 genes in 13q34 and a paternal 2.2 Mb duplication in 19p13.3 were revealed by CMA and qPCR.@*CONCLUSION@#The 13q34 region probably contains susceptibility genes for CHD.
Subject(s)
Child , Humans , Chromosome Deletion , Chromosome Disorders , Chromosomes, Human, Pair 13 , DNA Copy Number Variations , Heart Defects, CongenitalABSTRACT
Objective To study the influencing factors and clinical significance of ultrasonic quantitative analysis of the hip-flexion coronal section in the normal infants.Methods Totally 100 normal infants were enrolled.Angle α,angle β and FHC on different positions(mild-flexion and flexion of the hip) were mearured.And angle β on different points(the labrum central and the acetabular tips) were measured.The variation of the measurement index between different positions were analyzed.Results ①There was no significant difference in angle α between the neutral position and hip-flexion position (P ＞0.05).② FHC decreased in the hip-flexion position,and there was significant difference compared with the neutral position (P ＜0.05).③βc were greater than βt in the two positions (P ＜0.05);βc and βt were all greater in hip-flexion position than those in neutral position,the difference was statistically significant (P ＜0.05).Conclusions The results obtained from angle α is stable under the coronal flexion view of the normal infants,and does not vary with changing position.The change of the angle β and FHC with the hip flexion could be used to evaluate the stability of the hip.Measured angle β on the labrum tip has good repeatability.So this point should be selected to measure the angle β.