The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment

被引：41
作者：
del Castillo, Francisco J. [1 ,2 ]
del Castillo, Ignacio [1 ,2 ]
机构：
[1] Hosp Univ Ramon y Cajal, Unidad Genet Mol, IRYCIS, Madrid 28034, Spain
[2] Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain
来源：
FRONTIERS IN BIOSCIENCE-LANDMARK | 2011年 / 16卷
关键词：
Hearing impairment; DFNB1; GJB2; GJB6; Connexin-26; Connexin-30; Genetic epidemiology; Genotype-phenotype correlations; Animal models; Review; CONNEXIN; 26; GENE; GENOTYPE-PHENOTYPE CORRELATION; ICHTHYOSIS-DEAFNESS SYNDROME; MIDWESTERN UNITED-STATES; STEM EVOKED-POTENTIALS; GJB2 ALLELE VARIANTS; GAP-JUNCTION; INNER-EAR; SENSORINEURAL DEAFNESS; 35DELG MUTATION;
D O I：
10.2741/3910
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：
Inherited hearing impairment is a frequent and highly heterogeneous condition. Among the different subtypes of autosomal recessive non-syndromic hearing impairment, DFNB1 is remarkable for its high frequency in most populations. It is caused by mutations in the coding region or splice-sites of the GJB2 gene, or by mutations affecting regulatory sequences that are essential for the expression of this gene. GJB2 encodes connexin-26, a protein component of intercellular gap junctions, which play crucial physiological roles in the cochlea. Because of its high frequency, DFNB1 hearing impairment has received continued attention from researchers along the years, resulting in a wealth of data that is unparalleled among these disorders. Here we review our current knowledge on the genetic, molecular, and phenotypic aspects of this subtype of hearing impairment.
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收藏
页码：3252 / 3274
页数：23
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