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Title: | Mutations in ANTXR1 cause GAPO syndrome |
Authors: | Stránecký, V. Hoischen, A. Hartmannová, H. Zaki, M.S. Chaudhary, A. Zudaire, E. Nosková, L. Barešová, V. Přistoupilová, A. Hodaňová, K. Sovová, J. Hůlková, H. Piherová, L. Hehir-Kwa, J.Y. de Silva, D. Senanayake, M.P. Farrag, S. Zeman, J. Martásek, P. Baxová, A. Afifi, H.H. St Croix, B. Brunner, H.G. Temtamy, S. Kmoch, S. |
Issue Date: | 2013 |
Publisher: | University of Chicago Press |
Citation: | American Journal of Human Genetics; 92(5): pp.792-9 |
Abstract: | The genetic cause of GAPO syndrome, a condition characterized by growth retardation, alopecia, pseudoanodontia, and progressive visual impairment, has not previously been identified. We studied four ethnically unrelated affected individuals and identified homozygous nonsensemutations (c.262C>T [p.Arg88*] and c.505C>T [p.Arg169*]) or splicing mutations (c.1435-12A>G [p.Gly479Phefs*119]) in ANTXR1, which encodes anthrax toxin receptor 1. The nonsense mutations predictably trigger nonsense-mediated mRNA decay, resulting in the loss ofANTXR1. The transcript with the splicing mutation theoretically encodes a truncated ANTXR1 containing a neopeptide composed of 118 unique amino acids in its C terminus. GAPO syndrome's major phenotypic features, which include dental abnormalities and the accumulation of extracellular matrix, recapitulate those found in Antxr1-mutant mice and point toward an underlying defect in extracellular-matrix regulation. Thus, we propose that mutations affecting ANTXR1 function are responsible for this disease's characteristic generalized defect in extracellular-matrix homeostasis |
URI: | http://repository.kln.ac.lk/handle/123456789/2291 |
ISSN: | 0002-9297 (Print) 1537-6605 (Electronic) |
Appears in Collections: | Journal/Magazine Articles |
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