Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.

doi:10.1038/ejhg.2017.23

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Article

Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.

European journal of human genetics : EJHG - 1 May 2017

Testa Francesco, Filippelli Mariaelena, Brunetti-Pierri Raffaella, Di Fruscio Giuseppina, Di Iorio Valentina, Pizzo Mariateresa, Torella Annalaura, Barillari Maria Rosaria, Nigro Vincenzo, Brunetti-Pierri Nicola, Simonelli Francesca, Banfi Sandro

Abstract excerpt

Mutations in the PCYT1A gene have been recently linked to two different phenotypes: one characterized by spondylometaphyseal dysplasia and cone-rod dystrophy (SMD-CRD) and the other by congenital lipodystrophy, severe fatty liver disease, and reduced HDL cholesterol without any retinal or skeletal involvement. Here, we identified, by next generation sequencing, sequence variants affecting function in the PCYT1A...

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Identifiers

PMID: 28272537
DOI: 10.1038/ejhg.2017.23
PMCID: PMC5392360

Genes

PCYT1A

Provenance

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.