A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia

Neurogenetics. 2015 Jul;16(3):233-6. doi: 10.1007/s10048-014-0436-7. Epub 2015 Jan 8.

Abstract

Episodic ataxias (EAs) are a heterogeneous group of neurological disorders characterized by recurrent attacks of ataxia. Mutations in KCNA1 and CACNA1A account for the majority of EA cases worldwide. We recruited a two-generation family affected with EA of unknown subtype and performed whole-exome sequencing on two affected members. This revealed a novel heterozygous mutation c.211_212insA (p.I71NfsX27) leading to a premature stop codon in FGF14. Mutations in FGF14 are known to cause spinocerebellar ataxia type 27 (SCA27). Sanger sequencing confirmed segregation within the family. Our findings expand the phenotypic spectrum of SCA27 by underlining the possible episodic nature of this ataxia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Ataxia / genetics
  • Codon, Nonsense
  • Female
  • Fibroblast Growth Factors / genetics*
  • Frameshift Mutation
  • Humans
  • Male
  • Pedigree

Substances

  • Codon, Nonsense
  • fibroblast growth factor 14
  • Fibroblast Growth Factors

Supplementary concepts

  • Episodic Ataxia