Identification of Candidate Gene Variants in Korean MODY Families by Whole-Exome Sequencing

Hormone Research in Pædiatrics
Ye Jee ShimCheol Woo Ko

Abstract

To date, 13 genes causing maturity-onset diabetes of the young (MODY) have been identified. However, there is a big discrepancy in the genetic locus between Asian and Caucasian patients with MODY. Thus, we conducted whole-exome sequencing in Korean MODY families to identify causative gene variants. Six MODY probands and their family members were included. Variants in the dbSNP135 and TIARA databases for Koreans and the variants with minor allele frequencies >0.5% of the 1000 Genomes database were excluded. We selected only the functional variants (gain of stop codon, frameshifts and nonsynonymous single-nucleotide variants) and conducted a case-control comparison in the family members. The selected variants were scanned for the previously introduced gene set implicated in glucose metabolism. Three variants c.620C>T:p.Thr207Ile in PTPRD, c.559C>G:p.Gln187Glu in SYT9, and c.1526T>G:p.Val509Gly in WFS1 were respectively identified in 3 families. We could not find any disease-causative alleles of known MODY 1-13 genes. Based on the predictive program, Thr207Ile in PTPRD was considered pathogenic. Whole-exome sequencing is a valuable method for the genetic diagnosis of MODY. Further evaluation is necessary about the role of PTPRD, S...Continue Reading

Citations

Nov 5, 2016·Diabetes Research and Clinical Practice·Soo Heon KwakKyong Soo Park
Dec 29, 2015·Diabetes & Metabolism Journal·Sung Hoon Kim
Jan 10, 2020·Yeungnam University Journal of Medicine·Kyung Mi Jang
Aug 3, 2020·Journal of Diabetes Investigation·Hua LiangJianping Weng
Aug 1, 2019·World Journal of Diabetes·Nattachet PlengvidhyaPa-Thai Yenchitsomanus
Dec 19, 2016·Molecular Reproduction and Development·Jin XuCuilian Zhang
Oct 30, 2020·Diabetes & Metabolism Journal·Ye Seul YangKyong Soo Park
Feb 3, 2021·The Journal of Clinical Investigation·Haichen ZhangToni I Pollin
Jun 4, 2021·Frontiers in Endocrinology·Sandra HellerAlexander Kleger

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