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Article

Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.

PloS one - 1 Jan 2012

Cukras Catherine, Gaasterland Terry, Lee Pauline, Gudiseva Harini V, Chavali Venkata R M, Pullakhandam Raghu, Maranhao Bruno, Edsall Lee, Soares Sandra, Reddy G Bhanuprakash, Sieving Paul A, Ayyagari Radha

Abstract excerpt

Retinitis Pigmentosa (RP) is a common form of retinal degeneration characterized by photoreceptor degeneration and retinal pigment epithelium (RPE) atrophy causing loss of visual field and acuities. Exome sequencing identified a novel homozygous splice site variant (c.111+1G>A) in the gene encoding retinol binding protein 4 (RBP4). This change segregated with early onset, progressive, and severe autosomal...

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Source

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Identifiers

PMID: 23189188
DOI: 10.1371/journal.pone.0050205
PMCID: PMC3506607

Genes

RBP4
RPE

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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