Published online Oct 6, 2021. doi: 10.12998/wjcc.v9.i28.8461
Peer-review started: February 2, 2021
First decision: June 15, 2021
Revised: June 18, 2021
Accepted: August 16, 2021
Article in press: August 16, 2021
Published online: October 6, 2021
Renal cysts and diabetes (RCAD) syndrome is an autosomal dominant diabetic renal disease. Precise molecular diagnosis of RCAD syndrome has proven valuable for understanding its mechanism and personalized therapy.
A RCAD patient and her family were studied to investigate potential responsible genes by the whole exome sequencing (WES). Candidate pathogenic variants were validated by Sanger sequencing. The clinical characteristics of RCAD patient were collected from medical records. Unlike those typical RCAD patients, we observed renal manifestation and prediabetes phenotype, but not reproductive organ phenotype and hypomagnesaemia. A novel 7-bp deletion mutation in exon 4 of the hepatocyte nuclear factor 1B, NM_000458: c.882_888del (p.V294fs), was identified by WES and confirmed by Sanger sequencing.
This novel mutation identified in a Chinese family with RCAD syndrome might be the molecular pathogenic basis of this disorder.
Core Tip: Renal cysts and diabetes (RCAD) syndrome is an autosomal dominant diabetic renal disease. Precise molecular diagnosis of RCAD syndrome has proven valuable for understanding its mechanism and selecting optimal therapy. A novel deletion mutation of hepatocyte nuclear factor 1B gene (NM_000458: c.882_888del, p.V294fs) was identified in a Chinese family with RCAD syndrome by whole exome sequencing and Sanger sequencing. Considering the gene function and the genotype-phenotype correlation, mutation location, and its conservativeness, this mutation is considered to play a pathogenic role in the development of RCAD syndrome.