title: Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.
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.
authors.affiliation: Laboratory for Medical Genetics, ULB, Brussels, Belgium.
authors.forename: Julie
authors.initials: J
authors.lastname: Desir
authors.forename: Graciela
authors.initials: G
authors.lastname: Moya
authors.forename: Orit
authors.initials: O
authors.lastname: Reish
authors.forename: Nicole
authors.initials: N
authors.lastname: Van Regemorter
authors.forename: Hilde
authors.initials: H
authors.lastname: Deconinck
authors.forename: Karen L
authors.initials: KL
authors.lastname: David
authors.forename: Françoise M
authors.initials: FM
authors.lastname: Meire
authors.forename: Marc J
authors.initials: MJ
authors.lastname: Abramowicz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D027321:Anion Transport Proteins / Q000737:chemistry / Q000235:genetics*; D017920:Antiporters / Q000737:chemistry / Q000235:genetics*; D001483:Base Sequence; D001881:Borates / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D004252:DNA Mutational Analysis; D004727:Endothelium / Q000002:abnormalities*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
chemical_list: D027321:Anion Transport Proteins; D017920:Antiporters; D001881:Borates; C425809:SLC4A11 protein, human