Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations

Am J Med Genet A. 2014 Jul;164A(7):1821-5. doi: 10.1002/ajmg.a.36539. Epub 2014 Apr 8.

Abstract

We report on two male sibs, a fetus and a newborn, with short humeri and dysmorphic facial features including blepharophimosis. The newborn also had Hirschsprung disease. Goldberg-Shprintzen syndrome and the Say-Barber-Biesecker-Young-Simpson type of Ohdo syndrome were suspected but direct sequencing of KBP and KAT6B failed to identify a mutation. Finally, direct sequencing of MED12, the gene mutated in Opitz-Kaveggia syndrome, Lujan-Fryns syndrome and X-linked Ohdo syndrome identified in the two sibs the missense mutation c.3443G>A (p.Arg1148His) inherited from the mother. This report further expands the phenotypic spectrum of MED12 mutations.

Keywords: Goldberg-Shprintzen syndrome; Hirschsprung Disease; MED12; blepharophimosis; humerus; hypertelorism.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • Aborted Fetus
  • Blepharophimosis
  • Developmental Disabilities
  • Genetic Association Studies*
  • Hirschsprung Disease
  • Humans
  • Humerus / pathology
  • Infant, Newborn
  • Male
  • Mediator Complex / genetics*
  • Mutation*
  • Phenotype*
  • Prenatal Diagnosis
  • Siblings
  • Syndrome

Substances

  • MED12 protein, human
  • Mediator Complex