Evidence map›Paper›PMID 40319332›Full record

ArticleHuman genomics2025

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

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

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In one paragraph

Article in Human genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Belén García-BohórquezMolecular, Cellular and Genomics Biomedicine, Health Research Institute La Fe, Valencia, 46026, Spain.
Purificación Marín-ReinaDivision of Neonatology, University and Polytechnic Hospital La Fe, Valencia, 46026, Spain.
Elena AllerMolecular, Cellular and Genomics Biomedicine, Health Research Institute La Fe, Valencia, 46026, Spain.
Pilar Barberán-MartínezMolecular, Cellular and Genomics Biomedicine, Health Research Institute La Fe, Valencia, 46026, Spain.
Miguel ArmengotDepartment of Otorhinolaryngology, and Primary Ciliary Dyskinesia Unit, University and Polytechnic Hospital La Fe, Valencia, 46026, Spain.
Roberto Llorens-SalvadorClinical Imaging Area, University and Polytechnic Hospital La Fe, Valencia, 46026, Spain.
Inmaculada Concepción Almor-PalaciosDepartment of Ophthalmology, University and Polytechnic La Fe Hospital, Valencia, 46026, Spain.
José M Millán *Molecular, Cellular and Genomics Biomedicine, Health Research Institute La Fe, Valencia, 46026, Spain. jose_millan@iislafe.es.
Gema García-García *Molecular, Cellular and Genomics Biomedicine, Health Research Institute La Fe, Valencia, 46026, Spain. gema_garcia@iislafe.es.

Funding

Generalitat Valenciana CIPROM/2023/26Horizon 2020 Framework Programme 101136262Instituto de Salud Carlos III (ISCIII) PI22/00213, AC21_2/00022, CP22/00028, PI22/01371Ministerio de Universidades FPU20/04736
6 · The paper itself

Abstract

backgroundCiliopathies 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.

resultsA clinical exome analysis performed on a patient presenting with OFD-IX and sensorineural hearing loss (SNHL) identified two variants in TBC1D32, one of which affects splicing, with its impact validated using a minigene assay.

conclusionsThese results suggest that SNHL may represent a new clinical feature associated with this gene.

Indexed as

GTPase-Activating ProteinsHearing Loss, SensorineuralMutationOrofaciodigital SyndromesExome SequencingHumansGTPase-Activating ProteinsExpanding clinical spectrumHearing lossMinigene assayRetinitis pigmentosaTBC1D32

Identifiers

PMID40319332
PMCPMC12049765

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.