Split hand/foot malformation with long‐bone deficiency and BHLHA9 duplication: report of 13 new families. (15th July 2013)

• Record Type: Journal Article
• Authors: 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.
• Is Part Of: Clinical genetics. Volume 85:Number 5(2014:May)
• Page Start: 464
• Page End: 469
• Publication Date: 2013-07-15
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12219
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main" id="cge12219-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12219-para-0001">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 <italic>BHLHA9</italic> copy number gains are associated with this limb defect. Here, we report on 13 new families presenting with ectrodactyly and harboring a <italic>BHLHA9</italic> duplication.</p> </abstract>