6533b828fe1ef96bd1288d62

RESEARCH PRODUCT

Split hand/foot malformation with long-bone deficiency andBHLHA9duplication: report of 13 new families

C Le CaignecPierre-simon JoukFabienne EscandeNicole PorchetAnne-sophie JourdainJoris AndrieuxPhilippe LogetSylvie Manouvrier-hanuBrigitte Gilbert-dussardierMuriel Holder-espinasseMuriel Holder-espinasseLaurence FaivreClaire BeneteauFlorence PetitGeneviève BaujatAlbert DavidClarisse BaumannDominique GaillardLaurent Pasquier

subject

Ectrodactylybusiness.industryFoot malformationLong boneAnatomymedicine.diseaseSplit-Hand/Foot Malformationmedicine.anatomical_structureGene duplicationGeneticsmedicineTibiabusinessGenetics (clinical)

description

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.

yearjournalcountryeditionlanguage
2013-07-15Clinical Genetics
https://doi.org/10.1111/cge.12219