A COL4A5 missense variant in a Han-Chinese family with X-linked Alport syndrome.

CONCLUSION: By conducting exome sequencing and Sanger sequencing, a COL4A5 gene missense mutation, c.2156G>A (p.G719E) was identified to co-segregate with the renal disorders in this family. Our study extends the genotype-phenotype correlation in XLAS, which may be useful for genetic-counseling of this family. Further functional studies associated with genetic deficiency are warranted in the following research.
PMID: 31490752 [PubMed - as supplied by publisher]

Source: Current Molecular Medicine - September 5, 2019 Category: Molecular Biology Authors: Wu Y, Guo Y, Yuan J, Xu H, Chen Y, Zhang H, Yuan M, Deng H, Yuan L Tags: Curr Mol Med Source Type: research