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Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.

Genes - 18 Dec 2020

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 excerpt

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...

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Identifiers

PMID: 33353011
DOI: 10.3390/genes11121517
PMCID: PMC7766129

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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