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- Title
Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.
- Authors
Jespersgaard, Cathrine; Bertelsen, Mette; Arif, Farah; Gellert-Kristensen, Helene Gry; Fang, Mingyan; Jensen, Hanne; Rosenberg, Thomas; Tümer, Zeynep; Møller, Lisbeth Birk; Brøndum-Nielsen, Karen; Grønskov, Karen
- Abstract
Bi-allelic pathogenic variants in MERTK cause retinitis pigmentosa (RP). Since deletions of more than one exon have been reported repeatedly for MERTK, CNV (copy number variation) analysis of next-generation sequencing (NGS) data has proven important in molecular genetic diagnostics of MERTK. CNV analysis was performed on NGS data of 677 individuals with inherited retinal diseases (IRD) and confirmed by quantitative RT-PCR analysis. Clinical evaluation was based on retrospective records. Clinical re-examination included visual field examination, dark adaption, scotopic and photopic full-field electroretinograms (ffERG), multifocal ERG (mfERG) and optic coherence tomography (OCT). Fourteen variants were detected in MERTK in six individuals, three of which were deletions of more than one exon. Clinical examinations of five out of six individuals revealed a severe phenotype with early-onset generalized retinal dystrophy with night blindness and progressive visual field loss; however, one individual had a milder phenotype. Three individuals had hearing impairments. We show that deletions represent a substantial part of the causative variants in MERTK and emphasize that CNV analysis should be included in the molecular genetic diagnostics of IRDs.
- Subjects
RETINITIS pigmentosa; RETINAL diseases; HEARING disorders; GENETIC disorders; RETINAL degeneration; DYSTROPHY
- Publication
Genes, 2020, Vol 11, Issue 12, p1517
- ISSN
2073-4425
- Publication type
Article
- DOI
10.3390/genes11121517