Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype.

doi:10.1111/cge.13827

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Article

Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype.

Clinical genetics - 1 Nov 2020

Knuutinen Oula, Pyle Angela, Suo-Palosaari Maria, Duff Jennifer, Froukh Tawfiq, Lehesjoki Anna-Elina, Kangas Salla M, Cassidy James, Maraqa Latifa, Keski-Filppula Riikka, Kokkonen Hannaleena, Uusimaa Johanna, Horvath Rita, Vieira Päivi

Abstract excerpt

TATA-box binding protein associated factor, RNA polymerase I subunit C (TAF1C) is a component of selectivity factor 1 belonging to RNA polymerase I (Pol I) transcription machinery. We report two unrelated patients with homozygous TAF1C missense variants and an early onset neurological phenotype with severe global developmental delay. Clinical features included lack of speech and ambulation and epilepsy. MRI of...

Topics

Child, Preschool
Epilepsy
Female
Fibroblasts
Homozygote
Humans
Infant
Infant, Newborn
Magnetic Resonance Imaging
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Phenotype

RNA Polymerase I

Spasms, Infantile

TATA-Binding Protein Associated Factors

Transcription Factor TFIID

Source

Open in PubMed

Identifiers

PMID: 32779182
DOI: 10.1111/cge.13827

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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