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Article

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.

Ophthalmology - 1 Dec 2013

Siemiatkowska Anna M, van den Born L Ingeborgh, van Hagen P Martin, Stoffels Monique, Neveling Kornelia, Henkes Arjen, Kipping-Geertsema Mieke, Hoefsloot Lies H, Hoyng Carel B, Simon Anna, den Hollander Anneke I, Cremers Frans P M, Collin Rob W J

Abstract excerpt

OBJECTIVE: Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous disorder characterized by night blindness and peripheral vision loss, and in many cases leads to blindness. Despite extensive knowledge about genes involved in the pathogenesis of RP, the genetic cause remains elus...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24084495
DOI: 10.1016/j.ophtha.2013.07.052

Genes

MVK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24084495-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.PMID 24084495Read ↗

Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.Semantic proximity Read ↗

Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.Semantic proximity Read ↗

A novel MERTK mutation causing retinitis pigmentosa.Semantic proximity Read ↗

Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene.Semantic proximity Read ↗

Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduriaSemantic proximity Read ↗

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndromeSemantic proximity Read ↗

Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseasesSemantic proximity Read ↗

Putative modifier genes in mevalonate kinase deficiency.Semantic proximity Read ↗

Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.Semantic proximity Read ↗

Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.Semantic proximity Read ↗

Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype CorrelationSemantic proximity Read ↗

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