Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family.
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ABSTRACT:
SUBMITTER: Watanabe H
PROVIDER: S-EPMC9894847 | biostudies-literature | 2023 Feb
REPOSITORIES: biostudies-literature
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Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family.
Watanabe Hirofumi H Goto Shin S Hosojima Michihiro M Kabasawa Hideyuki H Imai Naofumi N Ito Yumi Y Narita Ichiei I
Human genome variation 20230202 1
We present a family of two female Alport syndrome patients with a family history of impaired glucose tolerance. Whole exome sequencing identified a novel heterozygous variant of COL4A5 NM_033380.3: c.2636 C > A (p.S879*) and a rare variant of GCK NM_001354800.1: c.1135 G > A (p.A379T) as the causes of Alport syndrome and monogenic diabetes, respectively. Two independent pathogenic variants affected the clinical phenotypes. Clinical next-generation sequencing is helpful for identifying the causes ...[more]
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