C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.

doi:10.1136/jmg.2011.088864

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Article

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.

Journal of medical genetics - 1 Jun 2011

Arts Heleen H, Bongers Ernie M H F, Mans Dorus A, van Beersum Sylvia E C, Oud Machteld M, Bolat Emine, Spruijt Liesbeth, Cornelissen Elisabeth A M, Schuurs-Hoeijmakers Janneke H M, de Leeuw Nicole, Cormier-Daire Valérie, Brunner Han G, Knoers Nine V A M, Roepman Ronald

Abstract excerpt

BACKGROUND: Sensenbrenner syndrome is a heterogeneous ciliopathy that is characterised by skeletal and ectodermal anomalies, accompanied by chronic renal failure, heart defects, liver fibrosis and other features. OBJECTIVE: To identify an additional causative gene in Sensenbrenner syndrome. METHODS: Single nucleotide polymorphism array analysis and standard sequencing techniques were applied to identify the...

Topics

Animals
Base Sequence
Carrier Proteins
Child
Cilia
Craniofacial Abnormalities
Ectodermal Dysplasia
Fibroblasts
Flagella
HEK293 Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Molecular Sequence Data

Morocco

Mutation

Netherlands

Oligonucleotide Array Sequence Analysis

Polymorphism, Single Nucleotide

Source

Open in PubMed

Identifiers

PMID: 21378380
DOI: 10.1136/jmg.2011.088864

Genes

IFT43

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-21378380-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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