CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome

Am J Med Genet A. 2014 Jan;164A(1):177-81. doi: 10.1002/ajmg.a.36166. Epub 2013 Nov 20.

Abstract

Mosaic variegated aneuploidy (MVA) is a rare autosomal recessive disorder characterized by constitutional aneuploidies. Mutations in BUB1B and CEP57 genes, which are involved in mitotic spindle and microtubule stabilization, respectively, are responsible for a subset of patients with MVA. To date, CEP57 mutations have been reported only in four probands. We report on a girl with this disorder due to c.915-925dup11 mutation in CEP57, which predicts p.Leu309ProfsX9 and review the literature in order to facilitate genotype-phenotype correlation. Rhizomelic shortening of the upper limbs, skull anomalies with conserved head circumference, and absence of tumor development could be features suggesting a need for molecular screening of the CEP57 gene in patients with this disorder.

Keywords: BUB1B; CEP57; mosaic variegated aneuploidy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aneuploidy
  • Child, Preschool
  • Chromosome Disorders / diagnosis
  • Chromosome Disorders / genetics*
  • Consanguinity
  • DNA Mutational Analysis
  • Facies
  • Female
  • Humans
  • Microtubule-Associated Proteins / genetics*
  • Mosaicism
  • Mutation*
  • Nuclear Proteins / genetics*
  • Pedigree
  • Phenotype

Substances

  • CEP57 protein, human
  • Microtubule-Associated Proteins
  • Nuclear Proteins

Supplementary concepts

  • Mosaic variegated aneuploidy syndrome