Heterozygous Mutations of the Kinesin KIF21A in Congenital Fibrosis of the Extraocular Muscles Type 1 (CFEOM1)

Nat Genet. 2003 Dec;35(4):318-21. doi: 10.1038/ng1261. Epub 2003 Nov 2.

Abstract

Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Child
  • Female
  • Fibrosis
  • Genetic Linkage
  • Genetic Variation*
  • Heterozygote
  • Humans
  • Kinesin / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics*
  • Oculomotor Muscles / pathology*
  • Ophthalmoplegia / congenital*
  • Ophthalmoplegia / pathology
  • Pedigree
  • Phenotype
  • Sequence Homology, Amino Acid

Substances

  • KIF21A protein, human
  • Nerve Tissue Proteins
  • Kinesin

Associated data

  • GENBANK/AC084373
  • GENBANK/AC090668
  • GENBANK/AC121334
  • GENBANK/AY368076
  • OMIM/135700
  • RefSeq/NM_016705
  • RefSeq/NP_057914
  • RefSeq/NP_064346
  • RefSeq/NP_609398
  • RefSeq/XP_223090