A novel EDAR missense mutation identified by whole ‐exome sequencing with non‐syndromic tooth agenesis in a Chinese family

ConclusionA novelEDAR missense variant c.338G>A (p.(Cys113Tyr)) was identified in a family with NSTA, extending the mutation spectrum of theEDAR gene. Genotype –phenotype correlation analyses ofEDAR andEDA mutations could help to improve disease status prediction in NSTA families.

Source: Molecular Genetics & Genomic Medicine - May 4, 2021 Category: Genetics & Stem Cells Authors: Hongyu Zhang, Xuanting Kong, Jiabao Ren, Shuo Yuan, Chunyan Liu, Yan Hou, Ye Liu, Lingqiang Meng, Guozhong Zhang, Qingqing Du, Wenjing Shen Tags: ORIGINAL ARTICLE Source Type: research