De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
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ABSTRACT:
SUBMITTER: Janssen BDE
PROVIDER: S-EPMC10087332 | biostudies-literature | 2022 Dec
REPOSITORIES: biostudies-literature
Publications
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
Janssen Beau D E BDE van den Boogaard Marie-Jose H MH Lichtenbelt Klaske K Seaby Eleanor G EG Stals Karen K Ellard Sian S Newbury-Ecob Ruth R Dixit Abhijit A Roht Laura L Pajusalu Sander S Õunap Katrin K Firth Helen V HV Buckley Michael M Wilson Meredith M Roscioli Tony T Tidwell Timothy T Mao Rong R Ennis Sarah S Holwerda Sjoerd J SJ van Gassen Koen K van Jaarsveld Richard H RH
Human mutation 20220810 12
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 ...[more]
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