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. © 2014 Wiley Periodicals, Inc.
CITATION STYLE
Isidor, B., Lefebvre, T., Le Vaillant, C., Caillaud, G., Faivre, L., Jossic, F., … David, A. (2014). Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations. American Journal of Medical Genetics, Part A, 164(7), 1821–1825. https://doi.org/10.1002/ajmg.a.36539
Mendeley helps you to discover research relevant for your work.