Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p

J Pediatr. 2014 Oct;165(4):858-61. doi: 10.1016/j.jpeds.2014.06.048. Epub 2014 Jul 25.

Abstract

Cri du chat syndrome (CdCS) and primary ciliary dyskinesia (PCD) are rare diseases that present with frequent respiratory symptoms. PCD can be caused by hemizygous DNAH5 mutation in combination with a 5p segmental deletion attributable to CdCS on the opposite chromosome. Chronic oto-sino-pulmonary symptoms or organ laterality defects in CdCS should prompt an evaluation for PCD.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Axonemal Dyneins / genetics
  • Child
  • Chromosome Deletion
  • Chromosome Mapping
  • Chromosomes, Human, Pair 5 / genetics*
  • Codon
  • Cri-du-Chat Syndrome / diagnostic imaging*
  • Cri-du-Chat Syndrome / genetics*
  • Female
  • Hemizygote
  • Humans
  • Kartagener Syndrome / diagnostic imaging*
  • Kartagener Syndrome / genetics*
  • Male
  • Mutation*
  • Phenotype
  • Radiography
  • Respiration Disorders / diagnostic imaging
  • Respiration Disorders / genetics

Substances

  • Codon
  • Axonemal Dyneins
  • DNAH5 protein, human