Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly

作者：Klopocki Eva; Kaehler Christian; Foulds Nicola; Shah Hitesh; Joseph Benjamin; Vogel Hermann; Luettgen Sabine; Bald Rainer; Besoke Regina; Held Karsten; Mundlos Stefan; Kurth Ingo^*

来源：European Journal of Human Genetics, 2012, 20(6): 705-708.

DOI：10.1038/ejhg.2011.264

• limb malformation
• mirror-image-polydactyly
• PITX1

PITX1 is a bicoid-related homeodomain transcription factor implicated in vertebrate hindlimb development. Recently, mutations in PITX1 have been associated with autosomal-dominant clubfoot. In addition, one affected individual showed a polydactyly and right-sided tibial hemimelia. We now report on PITX1 deletions in two fetuses with a high-degree polydactyly, that is, mirror-image polydactyly. Analysis of DNA from additional individuals with isolated lower-limb malformations and higher-degree polydactyly identified a third individual with long-bone deficiency and preaxial polydactyly harboring a heterozygous 35 bp deletion in PITX1. The findings demonstrate that mutations in PITX1 can cause a broad spectrum of isolated lower-limb malformations including clubfoot, deficiency of long bones, and mirror-image polydactyly. European Journal of Human Genetics (2012) 20, 705-708; doi:10.1038/ejhg.2011.264; published online 18 January 2012

• 出版日期2012-6
• 单位河北医科大学