Document Detail

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.
MedLine Citation:
PMID:  17220209     Owner:  NLM     Status:  MEDLINE    
Harboyan syndrome, or corneal dystrophy and perceptive deafness (CDPD), consists of congenital corneal endothelial dystrophy and progressive perceptive deafness, and is transmitted as an autosomal recessive trait. CDPD and autosomal recessive, non-syndromic congenital hereditary endothelial corneal dystrophy (CHED2) both map at overlapping loci at 20p13, and mutations of SLC4A11 were reported recently in CHED2. A genotype study on six families with CDPD and on one family with either CHED or CDPD, from various ethnic backgrounds (in the seventh family, hearing loss could not be assessed because of the proband's young age), is reported here. Novel SLC4A11 mutations were found in all patients. Why some mutations cause hearing loss in addition to corneal dystrophy is presently unclear. These findings extend the implication of the SLC4A11 borate transporter beyond corneal dystrophy to perceptive deafness.
Julie Desir; Graciela Moya; Orit Reish; Nicole Van Regemorter; Hilde Deconinck; Karen L David; Françoise M Meire; Marc J Abramowicz
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Publication Detail:
Type:  Journal Article     Date:  2007-01-12
Journal Detail:
Title:  Journal of medical genetics     Volume:  44     ISSN:  1468-6244     ISO Abbreviation:  J. Med. Genet.     Publication Date:  2007 May 
Date Detail:
Created Date:  2007-05-03     Completed Date:  2007-05-21     Revised Date:  2013-06-06    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  322-6     Citation Subset:  IM    
Laboratory for Medical Genetics, ULB, Brussels, Belgium.
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MeSH Terms
Abnormalities, Multiple / genetics*
Amino Acid Sequence
Anion Transport Proteins / chemistry,  genetics*
Antiporters / chemistry,  genetics*
Base Sequence
Borates / metabolism*
Child, Preschool
Corneal Dystrophies, Hereditary / genetics*
DNA Mutational Analysis
Endothelium / abnormalities*
Hearing Loss, Sensorineural / genetics*
Molecular Sequence Data
Mutation / genetics*
Reg. No./Substance:
0/Anion Transport Proteins; 0/Antiporters; 0/Borates; 0/SLC4A11 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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