Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

doi:10.1016/j.ophtha.2014.02.008

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Article

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

Ophthalmology - 1 Aug 2014

Nishiguchi Koji M, Avila-Fernandez Almudena, van Huet Ramon A C, Corton Marta, Pérez-Carro Raquel, Martín-Garrido Esther, López-Molina María Isabel, Blanco-Kelly Fiona, Hoefsloot Lies H, van Zelst-Stams Wendy A, García-Ruiz Pedro J, Del Val Javier, Di Gioia Silvio Alessandro, Klevering B Jeroen, van de Warrenburg Bart P C, Vazquez Carlos, Cremers Frans P M, García-Sandoval Blanca, Hoyng Carel B, Collin Rob W J, Rivolta Carlo, Ayuso Carmen

Abstract excerpt

OBJECTIVE: To identify the genetic causes underlying autosomal recessive retinitis pigmentosa (arRP) and to describe the associated phenotype. DESIGN: Case series. PARTICIPANTS: Three hundred forty-seven unrelated families affected by arRP and 33 unrelated families affected by retinitis pigmentosa (RP) plus noncongenital and progressive hearing loss, ataxia, or both, respectively. METHODS: A whole exome...

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Identifiers

PMID: 24697911
DOI: 10.1016/j.ophtha.2014.02.008

Genes

ABHD12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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