Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.

• 影响指数: 4.296
• 发表时间: May 2014
• 来源期刊: Clin Genet
• DOI: 10.1111/cge.12219
• PMID: 23790188
• 文章类型: Journal Article
• 中科院分区: Q1
• 方向: 生物
• 作者列表: 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

关键词: 17p13.3 duplication; BHLHA9; SHFLD; SHFM; ectrodactyly

Mesh: Basic Helix-Loop-Helix Transcription Factors / genetics; Chromosomes, Human, Pair 17 / genetics; Female; Genes, Duplicate; Humans; Limb Deformities, Congenital / genetics physiopathology; Male; Pedigree; Phenotype; Tibia / abnormalities physiopathology

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.