Linked Life Data

14759569

Source:http://linkedlifedata.com/resource/pubmed/id/14759569

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pubmed-article:14759569pubmed:abstractTextMutations in GJB2, encoding the gap junction protein connexin 26, are the most common cause of inherited non-syndromic hearing loss (NSHL), with a broad spectrum of mutations leading to recessive as well as dominant forms. It has been shown that patients who are compound heterozygous for a 342-kb deletion (Delta(GJB6-D13S1830)) involving a large portion of the 5'-part of GJB6, encoding connexin 30, and a GJB2 mutation develop NSHL due to a trait with a digenic pattern of inheritance. We have used a mutation-specific polymerase chain reaction assay to screen NSHL patients for the presence of Delta(GJB6-D13S1830) and identified two families segregating both c.35delG in GJB2 and Delta(GJB6-D13S1830). Remarkably, the severity of hearing loss due to heterozygosity for c.35delG in GJB2 in conjunction with Delta(GJB6-D13S1830) is considerably different in members of the two families, ranging from congenital deafness in one to moderate/severe hearing loss with congenital onset in the other case.lld:pubmed
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pubmed-article:14759569pubmed:dateRevised2006-11-15lld:pubmed
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pubmed-article:14759569pubmed:articleTitlePhenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6.lld:pubmed
pubmed-article:14759569pubmed:affiliationInstitute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany. bolz@uke.uni-hamburg.delld:pubmed
pubmed-article:14759569pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:14759569pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
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