Article
UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression.
Journal of medical genetics - 25 Nov 2024
Wang Xueqian, Yang Bingyu, Wu Shengnan, Fan Qisang, Wang Qing, Zhang Dandan, Wang Hongying, Feng Tao, Lv Haitao, Chen Ting
Abstract excerpt
BACKGROUND: The Upstream Binding Transcription Factor (UBTF) gene encodes two nucleolar proteins, UBTF1 and UBTF2. UBTF1 regulates rRNA transcription by RNA polymerase I, while UBTF2 regulates mRNA transcription by RNA polymerase II. A recurrent de novo dominant mutation c.628G>A (p.Glu210Lys) has been identified as a gain-of-function mutation associated with childhood onset neurodegeneration with brain atrophy...
Topics
- Humans
- Haploinsufficiency
- Developmental Disabilities
- Male
- Female
- Transcription Factors
- Child, Preschool
- Exome Sequencing
- DNA Copy Number Variations
- Child