Mutations in the human TBX4 gene cause small patella syndrome

Bongers, Ernie M. H. F., Duijf, Pascal H. G., van Beersum, Sylvia E. M., Schoots, Jeroen, van Kampen, Albert, Burckhardt, Andreas, Hamel, Ben C. J., Lošan, František, Hoefsloot, Lies H., Yntema, Helger G., Knoers, Nine V. A. M. and van Bokhoven, Hans (2004) Mutations in the human TBX4 gene cause small patella syndrome. American Journal of Human Genetics, 74 6: 1239-1248. doi:10.1086/421331

Author Bongers, Ernie M. H. F.
Duijf, Pascal H. G.
van Beersum, Sylvia E. M.
Schoots, Jeroen
van Kampen, Albert
Burckhardt, Andreas
Hamel, Ben C. J.
Lošan, František
Hoefsloot, Lies H.
Yntema, Helger G.
Knoers, Nine V. A. M.
van Bokhoven, Hans
Title Mutations in the human TBX4 gene cause small patella syndrome
Formatted title
Mutations in the human TBX4 gene cause small patella syndrome
Journal name American Journal of Human Genetics   Check publisher's open access policy
ISSN 0002-9297
Publication date 2004-06-01
Sub-type Article (original research)
DOI 10.1086/421331
Volume 74
Issue 6
Start page 1239
End page 1248
Total pages 10
Place of publication Cambridge, MA, United States
Publisher Cell Press
Language eng
Formatted abstract
Small patella syndrome (SPS) is an autosomal-dominant skeletal dysplasia characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. We identified an SPS critical region of 5.6 cM on chromosome 17q22 by haplotype analysis. Putative loss-of-function mutations were found in a positional gene encoding T-box protein 4 (TBX4) in six families with SPS. TBX4 encodes a transcription factor with a strongly conserved DNA-binding T-box domain that is known to play a crucial role in lower limb development in chickens and mice. The present identification of heterozygous TBX4 mutations in SPS patients, together with the similar skeletal phenotype of animals lacking Tbx4, establish the importance of TBX4 in the developmental pathways of the lower limbs and the pelvis in humans.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: UQ Diamantina Institute Publications
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Created: Fri, 06 Dec 2013, 01:37:12 EST by Pascal Duijf on behalf of UQ Diamantina Institute