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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Horizontal gaze palsy and progressive scoliosis due to a deleterious mutation in ROBO3
Ophthalmic Genetics, Volume 32, No. 4, Year 2011
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Description
Purpose: To describe a family with horizontal gaze palsy and progressive scoliosis with a deleterious mutation in the ROBO3 gene. Methods: All family members had full ophthalmologic, neurologic, and orthopedic examinations and complete sequencing of the ROBO3 gene. Results: Four affected members had complete loss of horizontal gaze with progressive scoliosis that varied between family members. ROBO3 sequencing revealed a novel 15 base deletion (c.2-16 delTGCTGCGCTACCTGC) in exon 1 that segregated in homozygous form with the phenotype and probably alters the shape and ionic charge of the extracellular immunoglobulin motif 1. This mutation was not detected in 100 control chromosomes. Conclusions: The novel ROBO3 mutation in this family may be among the most deleterious yet reported. Family members in general were severely affected, but comparison of this family to other families with ROBO3 mutations did not yield a definitive phenotype-genotype correlation. © 2011 Informa Healthcare USA, Inc.
Authors & Co-Authors
Abu-Amero, Khaled Khader
Saudi Arabia, Riyadh
College of Medicine
United States, Gainesville
University of Florida
Kapoor, Seema
India, New Delhi
Maulana Azad Medical College
Hellani, Ali M.
Saudi Arabia, Al-khobar
Saad Specialist Hospital
Monga, Sumit
India, New Delhi
Shroff Eye Centre
Bosley, Thomas M.
Saudi Arabia, Riyadh
College of Medicine
United States, Camden
Cooper University Hospital
Statistics
Citations: 17
Authors: 5
Affiliations: 6
Identifiers
Doi:
10.3109/13816810.2011.580445
e-ISSN:
17445094
Research Areas
Cancer
Disability
Genetics And Genomics
Health System And Policy