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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families
Molecular Vision, Volume 17, Year 2011
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Description
Purpose: Congenital fibrosis of the extraocular muscles type I (CFEOM1), the most common CFEOM worldwide, is characterized by bilateral ptotic hypotropia, an inability to supraduct above the horizontal midline, horizontal strabismus (typically exotropia), and ophthalmoplegia with abnormal synkinesis. This distinct non-syndromic phenotype is considered autosomal dominant and is virtually always from heterozygous missense mutations in kinesin family member 21A (KIF21A). However, there are occasional KIF21A-negative cases, opening the possibility for a recessive cause. The objective of this study is to explore this possibility by assessing CFEOM1 patients exclusively from consanguineous families, who are the most likely to have recessive cause for their phenotype if a recessive cause exists. Methods: Ophthalmic examination and candidate gene direct sequencing (KIF21A, paired-like homeobox 2A [PHOX2A], tubulin beta-3 [TUBB3]) of CFEOM1 patients from consanguineous families referred for counseling from 2005 to 2010. Results: All 5 probands had classic CFEOM1 as defined above. Three had siblings with CFEOM. None of the probands had mutations in KIF21A, PHOX2A, or TUBB3. Conclusions: The lack of KIF21A mutations in CFEOM1 patients exclusively from consanguineous families, most of whom had siblings with CFEOM, is strong evidence for a recessive form of CFEOM1. Further studies of such families will hopefully uncover the specific locus(loci). © 2011 Molecular Vision.
Authors & Co-Authors
Khan, Arif Omar
Saudi Arabia, Riyadh
King Khaled Eye Specialist Hospital
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Shinwari, Jameela M.A.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Omar, Aisha
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
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
Alanazi, Mohammad Saud
Saudi Arabia, Riyadh
King Saud University
al-Amri, Abdullah M.S.
Saudi Arabia, Riyadh
King Saud University
Al-Tassan, Nada A.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Statistics
Citations: 8
Authors: 8
Affiliations: 3
Identifiers
e-ISSN:
10900535
Research Areas
Genetics And Genomics
Health System And Policy