涉及PITX1的染色体5q31.1增益导致利本伯格综合征。 - Suppr

A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome.

作者信息

Seoighe Deirdre Máire, Gadancheva Veselina, Regan Regina, McDaid Jennifer, Brenner Clare, Ennis Sean, Betts David Richard, Eadie Patricia Anne, Lynch Sally Ann

机构信息

Department of Plastic Surgery, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.

出版信息

Am J Med Genet A. 2014 Nov;164A(11):2958-60. doi: 10.1002/ajmg.a.36712. Epub 2014 Aug 14.

DOI:10.1002/ajmg.a.36712

PMID:25124102

Abstract

摘要

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A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome.

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引用本文的文献

Liebenberg syndrome severity arises from variations in Pitx1 locus topology and proportion of ectopically transcribing cells.

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相似文献

A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome.

Am J Med Genet A. 2014 Nov;164A(11):2958-60. doi: 10.1002/ajmg.a.36712. Epub 2014 Aug 14.

promoter deletion causes endoactivation and Liebenberg syndrome.

J Med Genet. 2019 Apr;56(4):246-251. doi: 10.1136/jmedgenet-2018-105793. Epub 2019 Feb 2.

The Liebenberg syndrome: in depth analysis of the original family.

J Hand Surg Eur Vol. 2014 Nov;39(9):919-25. doi: 10.1177/1753193413502162. Epub 2013 Aug 12.

Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics.

Gene. 2013 Jul 15;524(1):65-71. doi: 10.1016/j.gene.2013.03.120. Epub 2013 Apr 12.

Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.

Am J Hum Genet. 2012 Oct 5;91(4):629-35. doi: 10.1016/j.ajhg.2012.08.014. Epub 2012 Sep 27.

Liebenberg syndrome: case report and insight into molecular basis.

J Hand Surg Am. 2013 Mar;38(3):459-65. doi: 10.1016/j.jhsa.2012.12.015. Epub 2013 Feb 8.

Liebenberg syndrome: first case of monovular twins.

Plast Reconstr Surg. 2010 Jan;125(1):25e-27e. doi: 10.1097/PRS.0b013e3181c2a2d3.

[Tarsal-carpal coalition syndrome: a familial case].

An Pediatr (Barc). 2012 Jun;76(6):355-9. doi: 10.1016/j.anpedi.2011.12.004. Epub 2012 Feb 9.

A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).

Hum Mutat. 2011 Aug;32(8):877-86. doi: 10.1002/humu.21515. Epub 2011 Jun 21.

Proximal symphalangism and premature ovarian failure.

Joint Bone Spine. 2012 Jan;79(1):83-4. doi: 10.1016/j.jbspin.2011.05.029. Epub 2011 Nov 15.

引用本文的文献

Liebenberg syndrome severity arises from variations in Pitx1 locus topology and proportion of ectopically transcribing cells.

Nat Commun. 2025 Jul 9;16(1):6321. doi: 10.1038/s41467-025-61615-2.

Complex Phenotypes: Mechanisms Underlying Variation in Human Stature.

Curr Osteoporos Rep. 2019 Oct;17(5):301-323. doi: 10.1007/s11914-019-00527-9.

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Nat Rev Genet. 2017 Apr;18(4):245-258. doi: 10.1038/nrg.2016.167. Epub 2017 Feb 6.

A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome.

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