|
KMID : 0381120160380100961
|
|
Genes and Genomics
2016 Volume.38 No. 10 p.961 ~ p.966
|
|
|
Genetic analysis of COL11A2 in Korean patients with autosomal dominant non-syndromic hearing loss
|
|
Kim Sang-Joo
Park Hong-Joon
Sagong Bo-Rum
Bae Seung-Hyun
Oh Se-Kyung
Baek Jeong-In
Choi Jae-Young
Lee Kyu-Yup
Kim Un-Kyung
|
|
|
Abstract
|
|
|
|
The collagen type XI alpha 2 gene (COL11A2) is associated with autosomal dominant non-syndromic hearing loss (ADNSHL), and all mutations of this gene in ADNSHL are missense mutations. To evaluate its potential as a major causative gene of ADNSHL in the Korean population, we performed genetic analysis of COL11A2 in 75 unrelated Korean patients with ADNSHL. Consequently, 5 non-synonymous variants, 7 synonymous variants, and 6 intronic variants were identified in COL11A2. Among them, a novel variant, p.G829R (c.2485G>C) was found in a patient as a heterozygote. However, pedigree analysis showed this variation was not co-segregated with hearing loss. Previously reported variants p.G230W (c.688G>T) and p.P1422L (c.4265C>T) were discovered in Korean patients. However, these variants were also detected in normal individuals. These results suggest that COL11A2 is not a major causative gene of ADNSHL in the Korean population.
|
|
|
KEYWORD
|
|
|
Autosomal dominant non-syndromic hearing loss, COL11A2, DFNA13, Mutation, Korean
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
 
|