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

Affiliation auteurs!!!! Error affiliation !!!!
TitreBlepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations
Type de publicationJournal Article
Year of Publication2014
AuteursIsidor B, Lefebvre T, Le Vaillant C, Caillaud G, Faivre L, Jossic F, Joubert M, Winer N, Le Caignec C, Borck G, Pelet A, Amiel J, Toutain A, Ronce N, Raynaud M, Verloes A, David A
JournalAMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume164
Pagination1821–1825
Date PublishedJUL
Type of ArticleArticle
ISSN1552-4825
Mots-clésblepharophimosis, Goldberg-Shprintzen syndrome, Hirschsprung Disease, humerus, hypertelorism, MED12
Résumé

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. (c) 2014 Wiley Periodicals, Inc.
DOI10.1002/ajmg.a.36539