Identification of COL4A4 variants in Chinese patients with familial hematuria.

ABSTRACT: Background: Benign familial hematuria and Alport syndrome are common causes of familial hematuria among children and young adults, which are attributable to variants in the collagen type IV alpha chain genes, COL4A3, COL4A4, or COL4A5. The study was conducted to identify the underlying genetic causes in patients with familial hematuria. Methods: Two unrelated Han-Chinese pedigrees with familial hematuria were recruited for this study. Whole exome sequencing was combined with in silico analysis to identify potential genetic variants, followed by variant confirmation by Sanger sequencing. Reverse transcription, PCR, and Sanger sequencing were performed to evaluate the effect of the detected splicing variant on mRNA splicing. Results: A novel h

SUBMITTER: Gao Y 

PROVIDER: S-EPMC9868811 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature