Mutations in IFT80 cause SRPS Type IV. Report of two families and review

Am J Med Genet A. 2019 Apr;179(4):639-644. doi: 10.1002/ajmg.a.61050. Epub 2019 Feb 14.

Abstract

We report novel causative mutations in the IFT80 gene identified in four fetuses from two unrelated families with Beemer-Langer syndrome (BLS) or BLS-like phenotypes. We discuss the implication of the IFT80 gene in ciliopathies, and its diagnostic value for BLS among other SRPS.

Keywords: IFT80; Beemer-Langer syndrome; ciliopathy; short rib polydactyly syndromes.

Publication types

  • Case Reports

MeSH terms

  • Carrier Proteins / genetics*
  • Female
  • Fetus / abnormalities
  • Fetus / metabolism
  • Fetus / pathology*
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Prenatal Diagnosis
  • Short Rib-Polydactyly Syndrome / genetics*
  • Short Rib-Polydactyly Syndrome / pathology*

Substances

  • Carrier Proteins
  • IFT80 protein, human

Supplementary concepts

  • Short rib-polydactyly syndrome, Beemer type