Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.

doi:10.1111/cge.70042

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Article

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.

Clinical genetics - 1 Feb 2026

Boutaud Lucile, Li Chunmei, Moncler Candice, Verlin Laure, Garfa-Traoré Meriem, Bourgon Nicolas, Akbari Dhruvin, Porée Jeanne, Serpieri Valentina, Panza Marine, Haddad Lynda, Nitschké Patrick, Aziza Jacqueline, Matt Cristina, Valente Enza Maria, Gargallo Patricia, Dubucs Charlotte, Attié-Bitach Tania, Leroux Michel R, Thomas Sophie

Abstract excerpt

Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability. Over 140 proteins localized to primary cilia, which are sensory organelles essential for vertebrate development, are implicated. TMEM17 encodes a transmembrane protein at the ciliary transition zone and was previously proposed as a potential ciliopathy gene, based on reports of individuals from two families...

Topics

Humans
Membrane Proteins
Ciliopathies
Mutation, Missense
Phenotype
Animals
Female
Encephalocele
Cilia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Abnormalities, Multiple

Eye Abnormalities

Cerebellum

Pedigree

Exome Sequencing

Orofaciodigital Syndromes

Caenorhabditis elegans

Kidney Diseases, Cystic

Source

Open in PubMed Open full text

Identifiers

PMID: 40841990
DOI: 10.1111/cge.70042
PMCID: PMC12779253

Genes

TMEM17

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.PMID 40841990Read ↗

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