rss
J Med Genet 44:322-326 doi:10.1136/jmg.2006.046904
  • Short report

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

  1. Julie Desir1,
  2. Graciela Moya2,
  3. Orit Reish3,
  4. Nicole Van Regemorter4,
  5. Hilde Deconinck5,
  6. Karen L David6,
  7. Françoise M Meire7,
  8. Marc J Abramowicz3
  1. 1Laboratory for Medical Genetics, ULB, Brussels, Belgium
  2. 2Fundacion Genos, Buenos Aires, Argentina
  3. 3Genetics Institute, Assaf Harofeh Medical Center, Zerifin, Israel
  4. 4Medical Genetics Department, Hôpital Erasme-ULB, Brussels, Belgium
  5. 5Ophthalmology Department, AZ-VUB, Brussels, Belgium
  6. 6Department of Pediatrics, Clinical Genetics Services, Metropolitan Hospital Center, New York, New York, USA
  7. 7Ophthalmology Department, University Hospital, Gent, Belgium
  1. Correspondence to:
 Dr M J Abramowicz
 Service de Génétique Médicale, Hôpital Erasme-ULB, 808 Route de Lennik, B-1070 Brussels, Belgium; marcabra{at}ulb.ac.be
  • Received 6 October 2006
  • Accepted 8 January 2007
  • Revised 28 December 2006
  • Published Online First 12 January 2007

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 (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.

Footnotes

  • Competing interests: None declared.

  • Published Online First 12 January 2007