Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.

doi:10.1002/humu.23539

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Article

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.

Human mutation - 1 Jul 2018

Geoffroy Véronique, Stoetzel Corinne, Scheidecker Sophie, Schaefer Elise, Perrault Isabelle, Bär Séverine, Kröll Ariane, Delbarre Marion, Antin Manuela, Leuvrey Anne-Sophie, Henry Charline, Blanché Hélène, Decker Eva, Kloth Katja, Klaus Günter, Mache Christoph, Martin-Coignard Dominique, McGinn Steven, Boland Anne, Deleuze Jean-François, Friant Sylvie, Saunier Sophie, Rozet Jean-Michel, Bergmann Carsten, Dollfus Hélène, Muller Jean

Abstract excerpt

Ciliopathies represent a wide spectrum of rare diseases with overlapping phenotypes and a high genetic heterogeneity. Among those, IFT140 is implicated in a variety of phenotypes ranging from isolated retinis pigmentosa to more syndromic cases. Using whole-genome sequencing in patients with uncha...

Topics

Alu Elements
Carrier Proteins
Cerebellar Ataxia
Ciliopathies
Databases, Genetic
Exons
Female
Heterozygote
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Mutation

Pedigree

Phenotype

Retinitis Pigmentosa

Whole Genome Sequencing

Source

Open in PubMed

Identifiers

PMID: 29688594
DOI: 10.1002/humu.23539

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-29688594-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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