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

Julie Desir1, Graciela Moya, Orit Reish

  • 1Laboratory for Medical Genetics, ULB, Brussels, Belgium.

Journal of Medical Genetics
|January 16, 2007
PubMed

Insights

Harboyan syndrome (CDPD) involves corneal dystrophy and hearing loss. Genetic analysis identified novel mutations in the SLC4A11 gene, linking this gene to both conditions and extending its role beyond corneal disease.

Area of Science:

  • Genetics
  • Ophthalmology
  • Audiology

Background:

  • Harboyan syndrome (CDPD) is an autosomal recessive disorder characterized by congenital corneal endothelial dystrophy and progressive perceptive deafness.
  • CDPD and congenital hereditary endothelial corneal dystrophy 2 (CHED2) share overlapping genetic loci at 20p13.
  • Mutations in the SLC4A11 gene have been previously identified in CHED2.

Purpose of the Study:

  • To investigate the genetic basis of Harboyan syndrome (CDPD).
  • To identify mutations in the SLC4A11 gene in families affected by CDPD.
  • To explore the role of SLC4A11 in the pathogenesis of both corneal dystrophy and perceptive deafness.

Main Methods:

  • Genotype analysis was performed on six families with CDPD and one family with either CHED or CDPD.
  • Patients were from diverse ethnic backgrounds.
  • Sequence analysis was used to detect mutations in the SLC4A11 gene.

Main Results:

  • Novel mutations in the SLC4A11 gene were identified in all patients with CDPD.
  • These findings confirm the involvement of SLC4A11 in Harboyan syndrome.
  • The study identified new mutations in SLC4A11.

Conclusions:

  • The SLC4A11 gene is implicated in Harboyan syndrome, causing both corneal dystrophy and perceptive deafness.
  • These findings expand the known functions of the SLC4A11 borate transporter.
  • Further research is needed to understand why SLC4A11 mutations lead to hearing loss in addition to corneal disease.

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