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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Novel mutations in MERTK associated with childhood onset rodcone dystrophy
Molecular Vision, Volume 16, Year 2010
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Description
Purpose: To report the clinical phenotype in patients with a retinal dystrophy associated with novel mutations in the MER tyrosine kinase (MERTK) gene. Methods: A consanguineous family of Middle Eastern origin was identified, and affected members underwent a full clinical evaluation. Linkage analysis was performed using the Affymetrix 50K chip. Regions of homozygosity were identified. The positional candidate genes protocadherin 21 (PCDH21), retinal G protein-coupled receptor (RGR), and MERTK were polymerase chain reaction (PCR) amplified and sequenced. Long-range PCR was performed to characterize the deletion. Two hundred and ninety-two probands with autosomal recessive, childhood onset, retinal dystrophies were analyzed using the Asper Ophthalmics Leber congenital amaurosis chip to screen for known MERTK mutations. Results: Analysis of a 50K-Affymetrix whole genome scan identified three regions of homozygosity on chromosomes 2 and 10. Screening of the candidate gene MERTK showed a possible deletion of exon 8. Long-range PCR identified a ~9 kb deletion within MERTK that removes exon 8. Screening of DNA from a panel of Saudi Arabian patients with autosomal recessive retinitis pigmentosa identified a second consanguineous family with the same mutation. One patient with a known MERTK mutation (p.R651X) was identified using the Asper Ophthalmics Leber congenital amaurosis chip. Further screening of the gene identified a second novel splice site mutation in intron 1. The phenotype associated with these identified MERTK mutations is of a childhood onset rod-cone dystrophy with early macular atrophy. The optical coherence tomography (OCT) appearance is distinctive with evidence of debris beneath the sensory retina. Conclusions: Mutations in MERTK are a rare cause of retinal dystrophy. Non homologous recombination between Alu Y repeats near or within disease genes may be an important cause of retinal dystrophies. © 2010 Molecular Vision.
Authors & Co-Authors
Mackay, Donna S.
United Kingdom, London
Ucl Institute of Ophthalmology
Henderson, Robert H.H.
United Kingdom, London
Ucl Institute of Ophthalmology
United Kingdom, London
Moorfields Eye Hospital Nhs Foundation Trust
Sergouniotis, Panagiotis I.
United Kingdom, London
Ucl Institute of Ophthalmology
Li, Zheng
United Kingdom, London
Ucl Institute of Ophthalmology
Moradi, Phillip
United Kingdom, London
Ucl Institute of Ophthalmology
United Kingdom, London
Moorfields Eye Hospital Nhs Foundation Trust
Holder, Graham E.
United Kingdom, London
Ucl Institute of Ophthalmology
United Kingdom, London
Moorfields Eye Hospital Nhs Foundation Trust
Waseem, Naushin
United Kingdom, London
Ucl Institute of Ophthalmology
Bhattacharya, Shomi Shanker
United Kingdom, London
Ucl Institute of Ophthalmology
Aldahmesh, Mohammed A.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Alkuraya., Fowzan S.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Meyer, Brian Francis
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Webster, Andrew R.
United Kingdom, London
Ucl Institute of Ophthalmology
United Kingdom, London
Moorfields Eye Hospital Nhs Foundation Trust
Moore, Anthony Tony
United Kingdom, London
Ucl Institute of Ophthalmology
United Kingdom, London
Moorfields Eye Hospital Nhs Foundation Trust
Statistics
Citations: 13
Authors: 13
Affiliations: 3
Identifiers
e-ISSN:
10900535
Research Areas
Cancer
Disability
Genetics And Genomics
Health System And Policy
Maternal And Child Health