Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family.
Hirofumi WatanabeShin GotoMichihiro HosojimaHideyuki KabasawaNaofumi ImaiYumi ItoIchiei NaritaPublished in: Human genome variation (2023)
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.
Keyphrases
- copy number
- type diabetes
- cardiovascular disease
- end stage renal disease
- case report
- photodynamic therapy
- ejection fraction
- newly diagnosed
- chronic kidney disease
- glycemic control
- gene expression
- single cell
- patient reported outcomes
- genome wide
- metabolic syndrome
- insulin resistance
- circulating tumor cells
- high throughput sequencing