Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.

doi:10.1007/s00439-024-02656-3

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

Community

Back to search

Article

Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.

Human genetics - 1 Mar 2024

Iwata-Otsubo Aiko, Skraban Cara M, Yoshimura Atsunori, Sakata Toyonori, Alves Cesar Augusto P, Fiordaliso Sarah K, Kuroda Yukiko, Vengoechea Jaime, Grochowsky Angela, Ernste Paige, Lulis Lauren, Nesbitt Addie, Tayoun Ahmad Abou, Gray Christopher, Towne Meghan C, Radtke Kelly, Normand Elizabeth A, Rhodes Lindsay, Seiler Christoph, Shirahige Katsuhiko, Izumi Kosuke

Abstract excerpt

General transcription factor IIIC subunit 5 (GTF3C5) encodes transcription factor IIIC63 (TFIIIC63). It binds to DNA to recruit another transcription factor, TFIIIB, and RNA polymerase III (Pol III) to mediate the transcription of small noncoding RNAs, such as tRNAs. Here, we report four individuals from three families presenting with a multisystem developmental disorder phenotype with biallelic variants in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to Intellectual Disability

Share to Pedigree

Share to RNA Polymerase III

Share to Transcription Factors, TFII

Share to Transcription, Genetic

Share to Zebrafish

Source

Open in PubMed Open full text

Identifiers

PMID: 38520561
DOI: 10.1007/s00439-024-02656-3
PMCID: PMC13502192

Genes

GTF3C5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.PMID 38520561Read ↗

Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafishSemantic proximity Read ↗

Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.Semantic proximity Read ↗

Inherited human TFIIIA deficiency disrupts T cell developmentSemantic proximity Read ↗

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.Semantic proximity Read ↗

Haploinsufficiency of SF3B2 causes craniofacial microsomia.Semantic proximity Read ↗

RNA Polymerase III subunit Polr3a is required for craniofacial cartilage and bone development in zebrafish.Semantic proximity Read ↗

RNA Polymerase III Subunit Mutations in Genetic DiseasesSemantic proximity Read ↗

Biallelic GTF3A mutations underline a novel human combined immunodeficiencySemantic proximity Read ↗

A <i>POLR3B</i> -variant reveals a Pol III transcriptome response dependent on La protein/SSBSemantic proximity Read ↗

Identification of POLR3B biallelic mutations-associated hypomyelinating leukodystrophy-8 in two siblings.Semantic proximity Read ↗

Mutations in <i>EBF3</i> disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphismSemantic proximity Read ↗

RNA Polymerase III subunit Polr3a is required for craniofacial cartilage and bone development in zebrafishSemantic proximity Read ↗

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