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Clinical Exome Sequencing Reveals a Novel COL4A5 Gene Mutation (c.1904G>T, p.G635V) in a Chinese Family with X-Linked Alport Syndrome



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.

18 Dec, 2017
e-Published: 20 Dec, 2017


Manuscripts that are Published Ahead of Print have been peer reviewed and accepted for publication by the Editorial Board of the West Indian Medical Journal. They may appear in their original format and may not be copy edited or formatted in the style guide of this Journal. While accepted manuscripts are not yet assigned a volume, issue or page numbers, they can be cited using the DOI and date of e-publication. See our Instructions for Authors on how to properly cite manuscripts at this stage. The contents of the manuscript may change before it is published in its final form. Manuscripts in this section will be removed once they have been issued to a volume and issue, but will still retain the DOI and date of e-publication.

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