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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 associated to retinal dystrophy and OFD, defining this form as OFD-IX. RESULTS: A clinical exome analysis performed on a...

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Identifiers

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

Genes

TBC1D32

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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