X-linked Alport syndrome (XLAS), a relatively frequent monogenic inherited kidney disorder, is clinically and genetically heterogeneous. In the present study, a novel missense mutation (c.1904G>T, p.G635V) in the gene COL4A5 was identified by clinical exome sequencing (CES) in a Chinese family suspected XLAS. And that result also was in accordance with co-segregation analysis. The data available provided strong evidence that c.1904G>T is a pathogenic mutation for XLAS. Meantime, this case also highlights that the genetic test is critical for the accurate diagnosis of young patients with kidney diseases.
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