Linked Life Data

14559215

Source:http://linkedlifedata.com/resource/pubmed/id/14559215

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2003-10-15
pubmed:abstractText
Nonsyndromic inherited hearing impairment is genetically heterogeneous. Up to now, approximately 51 autosomal dominant loci implicated in nonsyndromic forms of hearing impairment have been reported in humans and 17 causative genes have been identified. Skipping of exon 8 in the DFNA5 gene has been shown to cause hearing impairment in a Dutch family. To our knowledge, no other DFNA5 mutation has been reported in familial or sporadic hearing impairment. Here, we report another mutation in DFNA5, a CTT deletion in the polypyrimidine tract of intron 7. This mutation, just like the previously reported mutation in the Dutch family, leads to skipping of exon 8 of DFNA5. In addition, we prove the existence of a recently identified short isoform of DFNA5, but the 3-nucleotide deletion reported here seems not to affect the function of this short isoform. Because no other mutation in any other part of DFNA5 has ever been described, this finding might indicate that exon 8 of DFNA5 is indispensable for the development of hearing impairment.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0888-7543
pubmed:author
pubmed:issnType
Print
pubmed:volume
82
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
575-9
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family.
pubmed:affiliation
Health Science Center, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences and Shanghai Second Medical University, Shanghai 200025, People's Republic of China.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't