학술논문
New recurrent large deletion, encompassing both GJB2 and GB6 genes, results in isolated sensorineural hearing impairment with autosomal recessive mode of inheritance.
Document Type
Article
Author
Source
Subject
*SENSORINEURAL hearing loss
*GENETIC disorders
*GENETIC mutation
*POPULATION biology
*NUCLEOTIDE sequence
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Language
ISSN
1022-7954
Abstract
Hereditary hearing loss with the autosomal recessive mode of inheritance with DFNB1 genetic type, caused by mutations in the GJB2 gene, is major cause of congenital non-syndromal hearing impairment in most developed countries of the world (including Russia). Intragenic point mutations prevail among the GJB2 gene defects; however, large deletions in the DFNB1 locus are also found with considerable frequency in some populations (for example, Spain, Great Britain, France, United States, and Brazil). Among the four known large deletions, only one deletion affects directly the GJB2 gene sequence and was described in a single family. A new large deletion encompassing both the GJB2 and GJB6 gene sequences of approximately 101 kb in size (NC_000013.10:g.20,757,021_20,858,394del), detected in three unrelated Russian patients, is described and characterized in this essay. Ingush origin of this mutation is assumed. If the new deletion is frequent, its detection is very important for the genetic consulting to families with hereditary hearing impairment. [ABSTRACT FROM AUTHOR]