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Recurrent AIPL1 c.487C>T truncating variant in Leber Congenital Amaurosis: Support of pathogenicity and regional implications

View ORCID ProfileMohammed O.E. Abdallah, Mahmoud E. Koko, Shima Faisal, Melanie J. Newport, Muntaser E. Ibrahim
doi: https://doi.org/10.1101/290650
Mohammed O.E. Abdallah
1Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan
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  • ORCID record for Mohammed O.E. Abdallah
Mahmoud E. Koko
1Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan
2Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tuebingen, Germany
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Shima Faisal
3Faculty of Pharmacy, University of Khartoum, Khartoum, Sudan
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Melanie J. Newport
4Wellcome Trust Brighton and Sussex Centre for Global Health Research, Brighton and Sussex Medical School, Brighton, UK
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Muntaser E. Ibrahim
1Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan
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  • For correspondence: mibrahim@iend.org
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Abstract

Background Leber Congenital Amaurosis (LCA) is a clinically and genetically heterogeneous inherited retinal dystrophy characterized by early onset visual impairment caused by mutations in not less than 17 genes. AIPL1 mutations cause LCA type 4, comprising approximately 7% of LCA worldwide. The importance of establishing a genetic diagnosis lies in the promise of gene therapy demonstrated in mouse models.

Results we genetically investigated a consanguineous Sudanese family with Leber Congenital Amaurosis. Eight members of the family were affected. Using whole exome sequencing in two siblings and their healthy mother, both inheritance-based and phenotype-based prioritization strategies converged to identify a truncating variant (rs62637009) in AIPL1, consistent with a diagnosis of LCA type 4. AIPL1 c.487C>T is an ultra-rare cause of LCA4 that was seen previously in homozygous state in a single Palestinian family. This recurrent variant seems to have a regional importance with a likely founder effect.

Conclusions This report adds evidence to the pathogenicity of AIPL1 c.487C>T meriting its conclusive annotation as a recurrent pathogenic variant. This variant is particularly relevant to the middle-eastern and northeast African regions.

Footnotes

  • melsiddieg{at}gmail.com, mahmoudkoko{at}outlook.com, fshima94{at}gmail.com, M.J.Newport{at}bsms.ac.uk

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted March 28, 2018.
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Recurrent AIPL1 c.487C>T truncating variant in Leber Congenital Amaurosis: Support of pathogenicity and regional implications
Mohammed O.E. Abdallah, Mahmoud E. Koko, Shima Faisal, Melanie J. Newport, Muntaser E. Ibrahim
bioRxiv 290650; doi: https://doi.org/10.1101/290650
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Recurrent AIPL1 c.487C>T truncating variant in Leber Congenital Amaurosis: Support of pathogenicity and regional implications
Mohammed O.E. Abdallah, Mahmoud E. Koko, Shima Faisal, Melanie J. Newport, Muntaser E. Ibrahim
bioRxiv 290650; doi: https://doi.org/10.1101/290650

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