Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.
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Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. / Klopocki, Eva; Kähler, Christian; Foulds, Nicola; Shah, Hitesh; Joseph, Benjamin; Vogel, Hermann; Lüttgen, Sabine; Bald, Rainer; Besoke, Regina; Held, Karsten; Mundlos, Stefan; Kurth, Ingo.
In: EUR J HUM GENET, Vol. 20, No. 6, 6, 2012, p. 705-708.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.
AU - Klopocki, Eva
AU - Kähler, Christian
AU - Foulds, Nicola
AU - Shah, Hitesh
AU - Joseph, Benjamin
AU - Vogel, Hermann
AU - Lüttgen, Sabine
AU - Bald, Rainer
AU - Besoke, Regina
AU - Held, Karsten
AU - Mundlos, Stefan
AU - Kurth, Ingo
PY - 2012
Y1 - 2012
N2 - 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.
AB - 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.
M3 - SCORING: Journal article
VL - 20
SP - 705
EP - 708
JO - EUR J HUM GENET
JF - EUR J HUM GENET
SN - 1018-4813
IS - 6
M1 - 6
ER -