Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family

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 c...

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Detalles Bibliográficos
Autores principales: Watanabe, Hirofumi, Goto, Shin, Hosojima, Michihiro, Kabasawa, Hideyuki, Imai, Naofumi, Ito, Yumi, Narita, Ichiei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9894847/
https://www.ncbi.nlm.nih.gov/pubmed/36732323
http://dx.doi.org/10.1038/s41439-023-00233-0
Descripción
Sumario: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 of patients’ manifestations.

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