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Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations
Author(s) -
Isidor Bertrand,
Lefebvre Tiphaine,
Le Vaillant Claudine,
Caillaud Gaëlle,
Faivre Laurence,
Jossic Frédéric,
Joubert Madeleine,
Winer Norbert,
Le Caignec Cédric,
Borck Guntram,
Pelet Anna,
Amiel Jeanne,
Toutain Annick,
Ronce Nathalie,
Raynaud Martine,
Verloes Alain,
David Albert
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36539
Subject(s) - blepharophimosis , missense mutation , phenotype , genetics , biology , mutation , clinical phenotype , gene , ptosis , pharmacology
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.