Phenotypic and molecular variability of the holoprosencephalic spectrum

Am J Med Genet A. 2004 Aug 15;129A(1):21-4. doi: 10.1002/ajmg.a.30110.

Abstract

Since 1996, a European network has been organized from Rennes, France and holoprosencephalic files were collected for clinical and molecular study. Familial instances of typical and atypical holoprosencephaly (HPE) were found in 30% of cases. All affected children had psychomotor delay with microcephaly, often associated with endocrine, digestive, and respiratory abnormalities, and thermal dysregulation. Among 173 subjects in the molecular study, 28 heterozygous mutations were identified (16%): 15 SHH mutations, 6 ZIC2 mutations, 5 SIX3 mutations, and 2 TGIF mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Brain / abnormalities
  • Child
  • Endocrine System / abnormalities
  • Eye Proteins
  • Female
  • Fetus
  • Gastrointestinal Tract / abnormalities
  • Hedgehog Proteins
  • Holoprosencephaly / genetics*
  • Holoprosencephaly / pathology*
  • Homeobox Protein SIX3
  • Homeodomain Proteins / genetics
  • Humans
  • Male
  • Microcephaly / pathology
  • Mutation
  • Nerve Tissue Proteins / genetics
  • Nuclear Proteins
  • Phenotype
  • Psychomotor Disorders / pathology
  • Repressor Proteins / genetics
  • Respiratory System / pathology
  • Trans-Activators / genetics
  • Transcription Factors / genetics

Substances

  • Eye Proteins
  • Hedgehog Proteins
  • Homeodomain Proteins
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Repressor Proteins
  • SHH protein, human
  • TGIF1 protein, human
  • Trans-Activators
  • Transcription Factors
  • ZIC2 protein, human