GJB2 (Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort

被引：13

作者：

Carlsson, Per-Inge ^{[1
,2
]}

Karltorp, Eva ^{[3
]}

Carlsson-Hansen, Eva ^{[4
]}

Ahlman, Henrik ^{[5
]}

Moller, Claes ^{[2
,3
]}

Vondobeln, Ulrika ^{[5
]}

机构：

[1] Cent Hosp Karlstad, Dept Otorhinolaryngol, S-65185 Karlstad, Sweden

[2] Univ Hosp, Audiol Res Ctr, Orebro, Sweden

[3] Karolinska Univ Hosp, Dept Otorhinolaryngol, Stockholm, Sweden

[4] Univ Hosp, Dept Audiol, Orebro, Sweden

[5] Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden

来源：

ACTA OTO-LARYNGOLOGICA | 2012年 / 132卷 / 12期

关键词：

Non-syndromic hearing impairment; genetic tests; neonatal screening; CONGENITAL CYTOMEGALOVIRUS-INFECTION; SENSORINEURAL DEAFNESS; FREQUENCIES; AUSTRIA;

D O I：

10.3109/00016489.2012.701018

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

Conclusion: The most common mutation in the Swedish population was Connexin 26 (C x 26) 35delG, which indicates that the percentage of Swedish persons with C x 26 mutations and polymorphisms in the GJB2 gene among non-syndromic hearing-impaired (HI) persons is comparable to the rest of Europe. The results strongly support a Swedish policy to offer all children with diagnosed hearing impairment genetic tests for the C x 26 35delG mutation. Objectives: The aim of the present study was to search for mutations in the GBJ2 gene among Swedish persons with non-syndromic hearing impairment to further clarify how common these mutations are in Sweden, one of the northernmost countries in Europe. Methods: Seventy-nine patients with non-syndromic hearing impairment participated in the study. For 87% of the participants, a pure tone audiogram showed a severe or profound hearing impairment. Dried blood spots on filter paper, taken at 3-5 days of age in the Swedish nationwide neonatal screening programme for congenital disorders and saved in a biobank, were used for the molecular genetic analyses. Results: The total number of subjects with one or two pathologic mutations or a mutation of unknown consequence found in the GJB2 gene was 28 of 79 (35%). Nineteen (19) persons (24%) were homozygotes for the 35delG mutation.

引用

页码：1301 / 1305

页数：5

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