title: Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.
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.
authors.affiliation: Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU Lille, Lille, France; Université Lille Nord de France, Lille, France.
authors.forename: F
authors.initials: F
authors.lastname: Petit
authors.forename: A-S
authors.initials: AS
authors.lastname: Jourdain
authors.forename: J
authors.initials: J
authors.lastname: Andrieux
authors.forename: G
authors.initials: G
authors.lastname: Baujat
authors.forename: C
authors.initials: C
authors.lastname: Baumann
authors.forename: C
authors.initials: C
authors.lastname: Beneteau
authors.forename: A
authors.initials: A
authors.lastname: David
authors.forename: L
authors.initials: L
authors.lastname: Faivre
authors.forename: D
authors.initials: D
authors.lastname: Gaillard
authors.forename: B
authors.initials: B
authors.lastname: Gilbert-Dussardier
authors.forename: P-S
authors.initials: PS
authors.lastname: Jouk
authors.forename: C
authors.initials: C
authors.lastname: Le Caignec
authors.forename: P
authors.initials: P
authors.lastname: Loget
authors.forename: L
authors.initials: L
authors.lastname: Pasquier
authors.forename: N
authors.initials: N
authors.lastname: Porchet
authors.forename: M
authors.initials: M
authors.lastname: Holder-Espinasse
authors.forename: S
authors.initials: S
authors.lastname: Manouvrier-Hanu
authors.forename: F
authors.initials: F
authors.lastname: Escande
mesh_terms: D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D005260:Female; D020131:Genes, Duplicate; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013977:Tibia / Q000002:abnormalities* / Q000503:physiopathology
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; C571985:BHLHA9 protein, human
keywords: 17p13.3 duplication; BHLHA9; SHFLD; SHFM; ectrodactyly