Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.

doi:10.1016/j.ajhg.2016.06.017

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Article

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.

American journal of human genetics - 4 Aug 2016

Coppieters Frauke, Ascari Giulia, Dannhausen Katharina, Nikopoulos Konstantinos, Peelman Frank, Karlstetter Marcus, Xu Mingchu, Brachet Cécile, Meunier Isabelle, Tsilimbaris Miltiadis K, Tsika Chrysanthi, Blazaki Styliani V, Vergult Sarah, Farinelli Pietro, Van Laethem Thalia, Bauwens Miriam, De Bruyne Marieke, Chen Rui, Langmann Thomas, Sui Ruifang, Meire Françoise, Rivolta Carlo, Hamel Christian P, Leroy Bart P, De Baere Elfride

Abstract excerpt

Inherited retinal dystrophies (iRDs) are a group of genetically and clinically heterogeneous conditions resulting from mutations in over 250 genes. Here, homozygosity mapping and whole-exome sequencing (WES) in a consanguineous family revealed a homozygous missense mutation, c.973C>T (p.His325Tyr), in RCBTB1. In affected individuals, it was found to segregate with retinitis pigmentosa (RP), goiter, primary...

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Identifiers

PMID: 27486781
DOI: 10.1016/j.ajhg.2016.06.017
PMCID: PMC4974088

Genes

RCBTB1
CUL3
RCC1

Variants

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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