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Clinical Genetics

Publication date: 2014-05-01
Volume: 85 Pages: 464 - 469
Publisher: Wiley

Author:

Petit, F
Jourdain, A-S ; Andrieux, J ; Baujat, G ; Baumann, C ; Beneteau, C ; David, A ; Faivre, L ; Gaillard, D ; Gilbert-Dussardier, B ; Jouk, P-S ; Le Caignec, C ; Loget, P ; Pasquier, L ; Porchet, N ; Holder-Espinasse, M ; Manouvrier-Hanu, S ; Escande, F

Keywords:

Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, ectrodactyly, SHFLD, BHLHA9, SHFM, 17p13.3 duplication, Basic Helix-Loop-Helix Transcription Factors, Chromosomes, Human, Pair 17, Female, Genes, Duplicate, Humans, Limb Deformities, Congenital, Male, Pedigree, Phenotype, Tibia, 0604 Genetics, 1103 Clinical Sciences, 3105 Genetics, 3202 Clinical sciences

Abstract:

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.