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 uncharacterized ciliopathies, we identified a novel recurrent tandem duplication of exon 27-30 (6.7 kb) in IFT140,...

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Topics

Alu Elements
Carrier Proteins
Cerebellar Ataxia
Ciliopathies

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Databases, Genetic

Exons

Female

Heterozygote

Homozygote

Humans

Male

Mutation

Pedigree

Phenotype

Retinitis Pigmentosa

Whole Genome Sequencing

Source

Open in PubMed

Identifiers

PMID: 29688594
DOI: 10.1002/humu.23539

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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