Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.
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.
Service de Génétique Médicale, CHU de Nantes, Nantes, France; INSERM, UMR-S 957, Nantes, France.
Bertrand
B
Isidor
Tiphaine
T
Lefebvre
Claudine
C
Le Vaillant
Gaëlle
G
Caillaud
Laurence
L
Faivre
Frédéric
F
Jossic
Madeleine
M
Joubert
Norbert
N
Winer
Cédric
C
Le Caignec
Guntram
G
Borck
Anna
A
Pelet
Jeanne
J
Amiel
Annick
A
Toutain
Nathalie
N
Ronce
Martine
M
Raynaud
Alain
A
Verloes
Albert
A
David
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D037881:Aborted Fetus; D016569:Blepharophimosis; D002658:Developmental Disabilities; D056726:Genetic Association Studies; D006627:Hirschsprung Disease; D006801:Humans; D006811:Humerus / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D056892:Mediator Complex / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D011296:Prenatal Diagnosis; D035781:Siblings; D013577:Syndrome
C460107:MED12 protein, human; D056892:Mediator Complex
Goldberg-Shprintzen syndrome; Hirschsprung Disease; MED12; blepharophimosis; humerus; hypertelorism