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Split hand/foot malformation with long‐bone deficiency and BHLHA9 duplication: report of 13 new families
Author(s) -
Petit F.,
Jourdain A.S.,
Andrieux J.,
Baujat G.,
Baumann C.,
Beneteau C.,
David A.,
Faivre L.,
Gaillard D.,
GilbertDussardier B.,
Jouk P.S.,
Le Caignec C.,
Loget P.,
Pasquier L.,
Porchet N.,
HolderEspinasse M.,
ManouvrierHanu S.,
Escande F.
Publication year - 2014
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12219
Subject(s) - ectrodactyly , gene duplication , tibia , anatomy , medicine , foot (prosody) , biology , genetics , dermatology , ectodermal dysplasia , linguistics , philosophy , gene
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.