Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.

doi:10.1016/j.ajhg.2010.10.003

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Article

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.

American journal of human genetics - 10 Dec 2010

Li Yun, Laue Kathrin, Temtamy Samia, Aglan Mona, Kotan L Damla, Yigit Gökhan, Canan Husniye, Pawlik Barbara, Nürnberg Gudrun, Wakeling Emma L, Quarrell Oliver W, Baessmann Ingelore, Lanktree Matthew B, Yilmaz Mustafa, Hegele Robert A, Amr Khalda, May Klaus W, Nürnberg Peter, Topaloglu A Kemal, Hammerschmidt Matthias, Wollnik Bernd

Abstract excerpt

Altered Bone Morphogenetic Protein (BMP) signaling leads to multiple developmental defects, including brachydactyly and deafness. Here we identify chondroitin synthase 1 (CHSY1) as a potential mediator of BMP effects. We show that loss of human CHSY1 function causes autosomal-recessive Temtamy preaxial brachydactyly syndrome (TPBS), mainly characterized by limb malformations, short stature, and hearing loss....

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Identifiers

PMID: 21129728
DOI: 10.1016/j.ajhg.2010.10.003
PMCID: PMC2997369

Genes

CHSY1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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