Méjécase, C;
Kozak, I;
Moosajee, M;
(2020)
The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
, 184
(3)
pp. 762-772.
10.1002/ajmg.c.31824.
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Abstract
Genetic eye diseases are phenotypically and genetically heterogeneous, affecting 1 in 1,000 people worldwide. This prevalence can increase in populations where endogamy is a social preference, such as in Arab populations. A retrospective consecutive cohort of 91 patients from 74 unrelated families affected with non‐syndromic and syndromic inherited eye disease presenting to the ocular genetics service at Moorfields Eye Hospitals United Arab Emirates (UAE) between 2017 and 2019, underwent clinically accredited genetic testing using targeted gene panels. The mean ± SD age of probands was 27.4 ± 16.2 years, and 45% were female (41/91). The UAE has a diverse and dynamic population, and the main ethnicity of families in this cohort was 74% Arab (n = 55), 8% Indian (n = 6) and 7% Pakistani (n = 5). Fifty‐six families (90.3%) were genetically solved, with 69 disease‐causing variants in 40 genes. Fourteen novel variants were detected with large deletions in CDHR1 and TTLL5, a multiexon (1–8) duplication in TEAD1 and 11 single nucleotides variants in 9 further genes. ABCA4‐retinopathy was the most frequent cause accounting for 21% of cases, with the confirmed UAE founder mutation c.5882G>A p.(Gly1961Glu)/c.2570T>C p.(Leu857Pro) in 25%. High diagnostic yield for UAE patients can guide prognosis, family decision‐making, access to clinical trials and approved treatments.
| Type: | Article |
|---|---|
| Title: | The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/ajmg.c.31824 |
| Publisher version: | https://doi.org/10.1002/ajmg.c.31824 |
| Language: | English |
| Additional information: | This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited http://creativecommons.org/licenses/by/4.0/ |
| Keywords: | founder mutation, genetic testing, next generation sequencing, targeted gene panels, United Arab Emirates |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10108184 |
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