Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish Article Swipe
Mohamed S. Abdel‐Hamid
,
Adeline Paimboeuf
,
Maha S. Zaki
,
Fernanda Barbosa Figueiredo
,
Sherif F. Abdel‐Ghafar
,
Sabrina Maher
,
Rún Friðriksdóttir
,
Patrick Sulem
,
Hákon Björn Högnason
,
Sigrún Hallgrímsdóttir
,
Catarina Falleiros Nogueira Rojas
,
Fernando Kok
,
Mohnish Suri
,
Cesar Alves
,
Henry Houlden
,
Reza Maroofian
,
Shunmoogum A. Patten
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1093/braincomms/fcaf055
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1093/braincomms/fcaf055
RNA polymerase III transcribes essential non-coding RNAs, a process regulated by transcription factors TFIIIB and TFIIIC. Although germline variants in TFIIIC subunit genes have been described in a few patients with neurodevelopmental disorders, the associated pathogenesis and clinical spectrum are not yet well defined. Herein, we describe the identification of biallelic variants in GTF3C3, which encodes a key component of the TFIIIC subunit, in four patients from three unrelated families of different ethnicities collected through GeneMatcher. The patients exhibited microcephaly, developmental delay, intellectual disability and distinctive dysmorphic facies that appear recognizable in very young children. Their brain imaging showed brain atrophy with predominant cerebellar involvement, as well as hypoplasia of the frontal lobes and one patient had moderate to severe simplified gyral pattern. Seizures were observed in half of the patients. Exome/genome sequencing revealed four different GTF3C3 variants including three missense (p.Cys172Gly, p.Val427Phe and p.Ala509Thr) and one nonsense variant (p.Arg717Ter). Missense variants were not present in known genetic databases and occurred in highly conserved residues. Knockout of the GTF3C3 ortholog in zebrafish recapitulated the key clinical symptoms including microcephaly, brain anomalies and seizure susceptibility. We also observed reduced RNA polymerase III target gene expression in the zebrafish knockout model. This study describes a new neurodevelopmental syndrome in humans and zebrafish associated with biallelic GTF3C3 variants and underscores the need for further research into the biological impacts of variants in TFIIIC-linked genes and their contribution to RNA polymerase III-related pathologies.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1093/braincomms/fcaf055
- OA Status
- gold
- Cited By
- 1
- References
- 30
- Related Works
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- OpenAlex ID
- https://openalex.org/W4407159682
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4407159682Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1093/braincomms/fcaf055Digital Object Identifier
- Title
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Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafishWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2024Year of publication
- Publication date
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2024-12-24Full publication date if available
- Authors
-
Mohamed S. Abdel‐Hamid, Adeline Paimboeuf, Maha S. Zaki, Fernanda Barbosa Figueiredo, Sherif F. Abdel‐Ghafar, Sabrina Maher, Rún Friðriksdóttir, Patrick Sulem, Hákon Björn Högnason, Sigrún Hallgrímsdóttir, Catarina Falleiros Nogueira Rojas, Fernando Kok, Mohnish Suri, Cesar Alves, Henry Houlden, Reza Maroofian, Shunmoogum A. PattenList of authors in order
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https://doi.org/10.1093/braincomms/fcaf055Publisher landing page
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YesWhether a free full text is available
- OA status
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goldOpen access status per OpenAlex
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https://doi.org/10.1093/braincomms/fcaf055Direct OA link when available
- Concepts
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Zebrafish, Phenotype, Genetics, Biology, Protein subunit, Neurodevelopmental disorder, GeneTop concepts (fields/topics) attached by OpenAlex
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1Total citation count in OpenAlex
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2025: 1Per-year citation counts (last 5 years)
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.collected | 74 |
| abstract_inverted_index.component | 59 |
| abstract_inverted_index.conserved | 164 |
| abstract_inverted_index.databases | 159 |
| abstract_inverted_index.described | 26 |
| abstract_inverted_index.describes | 202 |
| abstract_inverted_index.different | 72, 136 |
| abstract_inverted_index.essential | 5 |
| abstract_inverted_index.exhibited | 79 |
| abstract_inverted_index.including | 139, 178 |
| abstract_inverted_index.patients. | 131 |
| abstract_inverted_index.regulated | 10 |
| abstract_inverted_index.residues. | 165 |
| abstract_inverted_index.unrelated | 69 |
| abstract_inverted_index.zebrafish | 172, 197, 210 |
| abstract_inverted_index.associated | 35, 211 |
| abstract_inverted_index.biological | 225 |
| abstract_inverted_index.cerebellar | 104 |
| abstract_inverted_index.disability | 84 |
| abstract_inverted_index.disorders, | 33 |
| abstract_inverted_index.dysmorphic | 87 |
| abstract_inverted_index.expression | 194 |
| abstract_inverted_index.hypoplasia | 109 |
| abstract_inverted_index.non-coding | 6 |
| abstract_inverted_index.polymerase | 2, 190, 237 |
| abstract_inverted_index.sequencing | 133 |
| abstract_inverted_index.simplified | 121 |
| abstract_inverted_index.III-related | 238 |
| abstract_inverted_index.distinctive | 86 |
| abstract_inverted_index.ethnicities | 73 |
| abstract_inverted_index.p.Val427Phe | 143 |
| abstract_inverted_index.predominant | 103 |
| abstract_inverted_index.transcribes | 4 |
| abstract_inverted_index.underscores | 217 |
| abstract_inverted_index.Exome/genome | 132 |
| abstract_inverted_index.GeneMatcher. | 76 |
| abstract_inverted_index.contribution | 234 |
| abstract_inverted_index.intellectual | 83 |
| abstract_inverted_index.involvement, | 105 |
| abstract_inverted_index.p.Ala509Thr) | 145 |
| abstract_inverted_index.pathogenesis | 36 |
| abstract_inverted_index.pathologies. | 239 |
| abstract_inverted_index.recognizable | 91 |
| abstract_inverted_index.(p.Cys172Gly, | 142 |
| abstract_inverted_index.TFIIIC-linked | 230 |
| abstract_inverted_index.developmental | 81 |
| abstract_inverted_index.microcephaly, | 80, 179 |
| abstract_inverted_index.recapitulated | 173 |
| abstract_inverted_index.transcription | 12 |
| abstract_inverted_index.(p.Arg717Ter). | 150 |
| abstract_inverted_index.identification | 49 |
| abstract_inverted_index.susceptibility. | 184 |
| abstract_inverted_index.neurodevelopmental | 32, 205 |
| cited_by_percentile_year.max | 95 |
| cited_by_percentile_year.min | 91 |
| countries_distinct_count | 6 |
| institutions_distinct_count | 17 |
| citation_normalized_percentile.value | 0.65288412 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |