Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online

Hum Mutat. 2007 May;28(5):522-3. doi: 10.1002/humu.9487.

Abstract

Autosomal recessive congenital hereditary endothelial dystrophy (CHED2) is a severe and rare corneal disorder that presents at birth or shortly thereafter, characterized by corneal opacification and nystagmus. Recently the gene for CHED2 was identified and seven different mutations in the SLC4A11 gene were reported. Here, we report seven novel mutations and two previously identified mutations in families from India and the United Kingdom with recessive CHED. The novel changes include two nonsense (p.Trp240X; p.Gln800X) three missense (p.Glu143Lys; p.Cys386Arg; p.Arg755Trp) and two splice site mutations (c.2240+1G>A; c.2437-1G>A). Interestingly, the c.2398C>T (p.Gln800X) and c.2437-1G>A identified in two affected siblings represent the first compound heterozygous mutations in the SLC4A11 gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anion Transport Proteins / genetics*
  • Antiporters / genetics*
  • Corneal Diseases / genetics*
  • Genes, Recessive*
  • Genetic Carrier Screening
  • Humans
  • India
  • Mutation*
  • United States

Substances

  • Anion Transport Proteins
  • Antiporters
  • SLC4A11 protein, human