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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in ANTXR1 cause GAPO syndrome
American Journal of Human Genetics, Volume 92, No. 5, Year 2013
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Description
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 nonsense mutations (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 of ANTXR1. 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. © 2013 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3644626/bin/mmc1.pdf
Authors & Co-Authors
Stránecký, Viktor
Czech Republic, Prague
Univerzita Karlova, Ústav Dědičných Metabolických Poruch
Hoischen, Alexander
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Hartmannová, Hana
Czech Republic, Prague
Univerzita Karlova, Ústav Dědičných Metabolických Poruch
Zaki, Maha S.
Egypt, Giza
National Research Centre
Chaudhary, Amit
United States, Reston
Leidos Inc.
Zudaire, Enrique
United States, Reston
Leidos Inc.
Nosková, Lenka
Czech Republic, Prague
Univerzita Karlova, Ústav Dědičných Metabolických Poruch
Barešová, Veronika
Czech Republic, Prague
Univerzita Karlova, Ústav Dědičných Metabolických Poruch
Přistoupilová, Anna
Czech Republic, Prague
Univerzita Karlova, Ústav Dědičných Metabolických Poruch
Hodaňová, Kateřina
Czech Republic, Prague
Univerzita Karlova, Ústav Dědičných Metabolických Poruch
Sovová, Jana
Czech Republic, Prague
Univerzita Karlova, Ústav Dědičných Metabolických Poruch
Hůlková, Helena
Czech Republic, Prague
Univerzita Karlova, Ústav Dědičných Metabolických Poruch
Piherová, Lenka
Czech Republic, Prague
Univerzita Karlova, Ústav Dědičných Metabolických Poruch
Hehir-Kwa, Jayne Y.
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
de Silva, Deepthi C.
Sri Lanka, Kelaniya
University of Kelaniya
Senanayake, Manouri P.
Sri Lanka, Colombo
University of Colombo
Farrag, Sameh
Czech Republic, Prague
Charles University
Zeman, Jiri
Czech Republic, Prague
Charles University
Martasek, Pavel
Czech Republic, Prague
Charles University
Baxová, Alice
Czech Republic, Prague
Charles University
Afifi, Hanan Hosny
Egypt, Giza
National Research Centre
St. Croix, Brad
United States, Reston
Leidos Inc.
Brunner, Han G.
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Temtamy, Samia Ali Li
Egypt, Giza
National Research Centre
Kmoch, Stanislav
Czech Republic, Prague
Univerzita Karlova, Ústav Dědičných Metabolických Poruch
Statistics
Citations: 73
Authors: 25
Affiliations: 7
Identifiers
Doi:
10.1016/j.ajhg.2013.03.023
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Cancer
Genetics And Genomics
Health System And Policy