R. Maamouri

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Imen Habibi

University of Lausanne

L. El Matri

Tunis El Manar University

Yousra Falfoul

Tunis El Manar University

A. Chebil

Faculté de médecine de Tunis

Ahmed Turki

University of Ha'il

Khaled El Matri

Tunis El Manar University

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Tunis El Manar University

Hopital Universitaire Hedi Chaker

Faculté de médecine de Tunis

Tunis University

Institute of Ophthalmology

Hôpital Charles-Nicolle

Research Institute of Ophthalmology

Hôpital Intercommunal de Créteil

Université Paris-Est Créteil

University of Lausanne

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A novel homozygous c.1154+3_1151+6delAAGT mutation in CERKL causes autosomal recessive retinitis pigmentosa with a special phenotype in a consanguineous Tunisian Family

Acta Ophthalmologica (2016)

L. El Matri Yousra Falfoul Imen Habibi Ahmed Turki R. Maamouri

Purpose The aim of our study was to assess the clinical phenotype and to determine the causative gene in a Tunisian family with an autosomic recessive retinitis pigmentose (arRP). Methods All accessible members of a consanguineous Tunisian family were included and underwent full ophthalmic examination with best corrected Snellen visual acuity, fundus photography, optical coherence tomography (SD‐OCT) and full field electroretinography (ERG). Index patient was selected for whole exome sequencing (WES) followed by homozygosity mapping. All detected variations were confirmed by direct Sanger sequencing. Results The clinical data of the patients showed typical hallmarks of RP symptoms for which affected individuals initially experienced night blindness with progressive visual loss and hemeralopia since the first decade of life. Visual acuity at baseline ranged from 1/10 to 5/10. Funduscopy revealed essentially mild optic disc and retinal atrophy and virtually no clumped pigmentation. Macula was normal in young patients and showed atrophic alteration in advanced stages. ERG was unrecordable in scotopic conditions and the cone responses were markedly hypovolted. Homozygosity mapping and whole exome sequencing identified a 4‐pb deletion, c.1154+3_1151+6delAAGT, located in the donor splice site of intron 8 of CERKL . The mutation impacts pre‐mRNA splicing of CERKL . This new deletion was present at a homozygous state in the two affected sons and was heterozygous in the parents. It was not present in the unaffected sister. Conclusions Mutations in CERKL gene have been reported in patients with retinitis pigmentosa, c.1154+3_1151+6delAAGT is a novel splicing variant associated with arRP. Extending the mutation spectrum of CERKL with additional families is important for genotype‐phenotype correlations.

Disease gene identification

Sanger sequencing

Electroretinography

10.1111/j.1755-3768.2016.0540

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