Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.
Fiche publication
Date publication
mai 2014
Auteurs
Membres identifiés du Cancéropôle Est :
Pr GAILLARD Dominique
Tous les auteurs :
Petit F, Jourdain AS, Andrieux J, Baujat G, Baumann C, Beneteau C, David A, Faivre L, Gaillard D, Gilbert-Dussardier B, Jouk PS, Le Caignec C, Loget P, Pasquier L, Porchet N, Holder-Espinasse M, Manouvrier-Hanu S, Escande F
Lien Pubmed
Résumé
Split hand/foot malformation (SHFM) with long-bone deficiency (SHFLD, MIM#119100) is a rare condition characterized by SHFM associated with long-bone malformation usually involving the tibia. Previous published data reported several unrelated patients with 17p13.3 duplication and SHFLD. Recently, the minimal critical region had been reduced, suggesting that BHLHA9 copy number gains are associated with this limb defect. Here, we report on 13 new families presenting with ectrodactyly and harboring a BHLHA9 duplication.
Référence
Clin Genet. 2014 May;85(5):464-9