Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.

Human genomics - 3 May 2025

García-Bohórquez Belén, Marín-Reina Purificación, Aller Elena, Barberán-Martínez Pilar, Armengot Miguel, Llorens-Salvador Roberto, Almor-Palacios Inmaculada Concepción, Millán José M, García-García Gema

Abstract excerpt

BACKGROUND: Ciliopathies are characterized by the dysfunction of cilia, being inherited retinal dystrophies (IRDs) included in sensory ciliopathies. Besides, oro-facial-digital syndrome (OFD) is caused by mutations in ciliary genes, leading to dysmorphic features. Mutations in TBC1D32 were associ...

Topics

Humans
Exome Sequencing
GTPase-Activating Proteins
Hearing Loss, Sensorineural
Mutation
Orofaciodigital Syndromes

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 40319332
DOI: 10.1186/s40246-025-00759-0
PMCID: PMC12049765

Genes

TBC1D32

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-40319332-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.PMID 40319332Read ↗

Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.Semantic proximity Read ↗

Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.Semantic proximity Read ↗

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.Semantic proximity Read ↗

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.Semantic proximity Read ↗

Novel Potentially Pathogenic Variants in TBC1D32 Cause Non-syndromic Rod-Cone Degeneration.Semantic proximity Read ↗

A 5’ UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathySemantic proximity Read ↗

A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment.Semantic proximity Read ↗

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.Semantic proximity Read ↗

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.Semantic proximity Read ↗

Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variantSemantic proximity Read ↗

Expanding the phenotype associated with biallelic SCNM1 variants.Semantic proximity Read ↗

Zebrafish in-vivo study reveals deleterious activity of human TBC1D24 genetic variants linked with autosomal dominant hearing loss.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.