Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

Julie Desir, Graciela Moya, Orit Reish, Nicole Van Regemorter, Hilde Deconinck, Karen L. David, Françoise M. Meire, Marc J. Abramowicz*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

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 fin 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.

Original languageEnglish
Pages (from-to)322-326
Number of pages5
JournalJournal of Medical Genetics
Volume44
Issue number5
DOIs
StatePublished - May 2007
Externally publishedYes

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