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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature
American Journal of Human Genetics, Volume 85, No. 5, Year 2009
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Description
Weill-Marchesani syndrome (WMS) is a well-characterized disorder in which patients develop eye and skeletal abnormalities. Autosomal-recessive and autosomal-dominant forms of WMS are caused by mutations in ADAMTS10 and FBN1 genes, respectively. Here we report on 13 patients from seven unrelated families from the Arabian Peninsula. These patients have a constellation of features that fall within the WMS spectrum and follow an autosomal-recessive mode of inheritance. Individuals who came from two families and met the diagnostic criteria for WMS were each found to have a different homozygous missense mutation in ADAMTS10. Linkage analysis and direct sequencing of candidate genes in another two families and a sporadic case with phenotypes best described as WMS-like led to the identification of three homozygous mutations in the closely related ADAMTS17 gene. Our clinical and genetic findings suggest that ADAMTS17 plays a role in crystalline lens zonules and connective tissue formation and that mutations in ADAMTS17 are sufficient to produce some of the main features typically described in WMS. © 2009 The American Society of Human Genetics.
Authors & Co-Authors
Morales, Jose
Saudi Arabia, Riyadh
King Khaled Eye Specialist Hospital
Al-Sharif, Latifa
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Khalil, Dania S.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Shinwari, Jameela M.A.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Bavi, Prashant P.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Mahrouqi, Rahima A.
Saudi Arabia, Riyadh
King Khaled Eye Specialist Hospital
Oman, Muscat
Al Nahdha Hospital
Al-Rajhi, Ali A.
Saudi Arabia, Riyadh
King Khaled Eye Specialist Hospital
Alkuraya., Fowzan S.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
United States, Boston
Boston Children's Hospital
Saudi Arabia, Riyadh
King Khalid University Hospital
Saudi Arabia, Riyadh
College of Medicine Alfaisal University
Meyer, Brian Francis
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Tassan, Nada A.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Statistics
Citations: 218
Authors: 10
Affiliations: 6
Identifiers
Doi:
10.1016/j.ajhg.2009.09.011
ISSN:
00029297
Research Areas
Cancer
Genetics And Genomics
Health System And Policy