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De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder

Authors :
Beau D. E. Janssen
Marie‐Jose H. van den Boogaard
Klaske Lichtenbelt
Eleanor G. Seaby
Karen Stals
Sian Ellard
Ruth Newbury‐Ecob
Abhijit Dixit
Laura Roht
Sander Pajusalu
Katrin Õunap
Helen V. Firth
Michael Buckley
Meredith Wilson
Tony Roscioli
Timothy Tidwell
Rong Mao
Sarah Ennis
Sjoerd J. Holwerda
Koen van Gassen
Richard H. van Jaarsveld
Source :
Human Mutation. 43:1844-1851
Publication Year :
2022
Publisher :
Hindawi Limited, 2022.

Abstract

TATA-binding protein associated factor 4 (TAF4) is a subunit of the Transcription Factor IID (TFIID) complex, a central player in transcription initiation. Other members of this multimeric complex have been implicated previously as monogenic disease genes in human developmental disorders. TAF4 has not been described to date as a monogenic disease gene. We here present a cohort of eight individuals, each carrying de novo putative loss-of-function (pLoF) variants in TAF4 and expressing phenotypes consistent with a neuro-developmental disorder (NDD). Common features include intellectual disability, abnormal behavior, and facial dysmorphisms. We propose TAF4 as a novel dominant disease gene for NDD, and coin this novel disorder “TAF4-related NDD” (T4NDD). We place T4NDD in the context of other disorders related to TFIID subunits, revealing shared features of T4NDD with other TAF-opathies.

Details

ISSN :
10981004 and 10597794
Volume :
43
Database :
OpenAIRE
Journal :
Human Mutation
Accession number :
edsair.doi.dedup.....0d693dc401797f12590f81953365c5f3
Full Text :
https://doi.org/10.1002/humu.24444