Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

Nat Genet. 2006 Nov;38(11):1242-4. doi: 10.1038/ng1893. Epub 2006 Oct 1.

Abstract

Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / embryology
  • Brain / metabolism
  • Chromosome Mapping
  • Chromosomes, Human, X
  • Cytoskeletal Proteins / genetics*
  • Cytoskeletal Proteins / physiology
  • Eye Movements / genetics
  • Eye Movements / physiology
  • Female
  • Gene Expression Regulation, Developmental
  • Genes, X-Linked*
  • Genetic Linkage
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Membrane Proteins / physiology
  • Mutation / physiology
  • Nystagmus, Congenital / genetics*
  • Pedigree
  • Retina / metabolism

Substances

  • Cytoskeletal Proteins
  • FRMD7 protein, human
  • Membrane Proteins