| PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. | |
| | |
MedLine Citation:
|
PMID: 14570705 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Recessive splice site and nonsense mutations of PCDH15, encoding protocadherin 15, are known to cause deafness and retinitis pigmentosa in Usher syndrome type 1F (USH1F). Here we report that non-syndromic recessive hearing loss (DFNB23) is caused by missense mutations of PCDH15. This suggests a genotype-phenotype correlation in which hypomorphic alleles cause non-syndromic hearing loss, while more severe mutations of this gene result in USH1F. We localized protocadherin 15 to inner ear hair cell stereocilia, and to retinal photoreceptors by immunocytochemistry. Our results further strengthen the importance of protocadherin 15 in the morphogenesis and cohesion of stereocilia bundles and retinal photoreceptor cell maintenance or function. |
| | |
Authors:
|
Zubair M Ahmed; Saima Riazuddin; Jamil Ahmad; Steve L Bernstein; Yan Guo; Muhammad F Sabar; Paul Sieving; Sheikh Riazuddin; Andrew J Griffith; Thomas B Friedman; Inna A Belyantseva; Edward R Wilcox |
Related Documents
:
|
8528245 - Gitelman's variant of bartter's syndrome, inherited hypokalaemic alkalosis, is caused b... 11577985 - Transcription factor gata3 and the human hdr syndrome. 162525 - A genetic analysis of the papillon-lefèvre syndrome in a jewish family from cochin. 19353645 - Further case of rubinstein-taybi syndrome due to a deletion in ep300. 3991085 - Mitral valve prolapse syndrome: etiology and symptomatology. 18290895 - Scimitar syndrome presenting in adults. |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. Date: 2003-10-21 |
Journal Detail:
|
Title: Human molecular genetics Volume: 12 ISSN: 0964-6906 ISO Abbreviation: Hum. Mol. Genet. Publication Date: 2003 Dec |
Date Detail:
|
Created Date: 2003-12-03 Completed Date: 2004-09-23 Revised Date: 2007-11-14 |
Medline Journal Info:
|
Nlm Unique ID: 9208958 Medline TA: Hum Mol Genet Country: England |
Other Details:
|
Languages: eng Pagination: 3215-23 Citation Subset: IM |
Affiliation:
|
Section of Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Aged Alleles Animals Base Sequence Cadherins / genetics, metabolism* Cochlea / metabolism* Deafness / genetics Epithelium / metabolism Genes, Recessive Haplorhini Humans Linkage (Genetics) Lod Score Male Mice Mice, Inbred C57BL Mutation, Missense Pedigree Protein Precursors / genetics, metabolism* Retina / metabolism* Retinitis Pigmentosa / genetics |
| Grant Support | |
ID/Acronym/Agency:
|
Z01DC00035-06/DC/NIDCD NIH HHS; Z01DC00039-06/DC/NIDCD NIH HHS; Z01DC00064-02/DC/NIDCD NIH HHS |
| Chemical | |
Reg. No./Substance:
|
0/Cadherins; 0/PCDH15 protein, human; 0/Pcdh15 protein, mouse; 0/Protein Precursors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Impact of selection, mutation rate and genetic drift on human genetic variation.
Next Document: Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease.