Genetic analysis of COL11A2 in Korean patients with autosomal dominant non-syndromic hearing loss

被引：0

作者：

Kim, Sang-Joo ^{[1
,2
]}

Park, Hong-Joon ^{[3
]}

Sagong, Borum ^{[1
]}

Bae, Seung-Hyun ^{[1
,2
]}

Oh, Se-Kyung ^{[4
]}

Baek, Jeong-In ^{[5
]}

Choi, Jae Young ^{[6
]}

Lee, Kyu-Yup ^{[7
]}

Kim, Un-Kyung ^{[1
,2
]}

机构：

[1] Kyungpook Natl Univ, Dept Biol, Coll Nat Sci, Daegu 41566, South Korea

[2] Kyungpook Natl Univ, Sch Life Sci, Plus KNU Creat BioRes Grp BK21, Daegu 41566, South Korea

[3] Soree Ear Clin, Seoul 06068, South Korea

[4] Korea Polar Res Inst KOPRI, Div Life Sci, Inchon 21990, South Korea

[5] Daegu Haany Univ, Dept Aroma Appl Ind, Coll Herbal Bioind, Gyongsan 38610, South Korea

[6] Yonsei Univ, Dept Otorhinolaryngol, Coll Med, Seoul 03722, South Korea

[7] Kyungpook Natl Univ, Dept Otorhinolaryngol Head & Neck Surg, Coll Med, Daegu 41944, South Korea

来源：

GENES & GENOMICS | 2016年 / 38卷 / 10期

基金：

新加坡国家研究基金会;

关键词：

Autosomal dominant non-syndromic hearing loss; COL11A2; DFNA13; Mutation; Korean; NONOCULAR STICKLER-SYNDROME; OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSTEOGENESIS IMPERFECTA; I COLLAGEN; MUTATIONS; FAMILIES; DFNB53; CHAIN; LOCUS;

D O I：

10.1007/s13258-016-0440-4

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：961 / 966

页数：6

共 21 条

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