title: Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis.
abstract: Split-hand/foot malformation (SHFM) with long-bone deficiency (SHFLD, MIM#119100) is a rare condition characterised 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, BHLHA9 has been proposed to be the major candidate gene responsible for this limb malformation. Here we report two new patients affected with ectrodactyly harbouring a 17p13.3 duplication detected by array-CGH. Both duplications contain 3 genes including BHLHA9 and are inherited from an unaffected parent. One of the patients presents a complete radial agenesis, expanding the phenotype of SHFLD3.
authors.affiliation: Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU, Lille, France. florence.petit@chru-lille.fr
authors.forename: Florence
authors.initials: F
authors.lastname: Petit
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Demeer
authors.forename: Louis-Michel
authors.initials: LM
authors.lastname: Collet
authors.forename: Henri
authors.initials: H
authors.lastname: Copin
authors.forename: Elise
authors.initials: E
authors.lastname: Boudry-Labis
authors.forename: Fabienne
authors.initials: F
authors.lastname: Escande
authors.forename: Sylvie
authors.initials: S
authors.lastname: Manouvrier-Hanu
authors.forename: Michèle
authors.initials: M
authors.lastname: Mathieu-Dramard
mesh_terms: D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17; D055028:Comparative Genomic Hybridization; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D010641:Phenotype; D011995:Recombination, Genetic; D013977:Tibia / Q000002:abnormalities
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; C571985:BHLHA9 protein, human