Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique

ConclusionA comparison of the clinical manifestations caused by different types of mutations inCOL4A5 suggested that large fragment mutations are relatively more severe than the other missense mutations and AS by some mutations may show inter ‐ and intra‐familial phenotypic variability. It is important to consider these transmission patterns in the clinical evaluation according to the results of genetic testing, especially for DI. Twenty two new mutations can expand the genotypic spectrum of AS.

Source: Molecular Genetics & Genomic Medicine - April 8, 2019 Category: Genetics & Stem Cells Authors: Xuechao Zhao, Chen Chen, Yanfu Wei, Ganye Zhao, Lina Liu, Conghui Wang, Junjun Zhang, Xiangdong Kong Tags: ORIGINAL ARTICLE Source Type: research