Article
Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patients.
Neurogenetics - 1 Apr 2023
Zhao Peiwei, Meng Qingjie, Wan Chunhui, Lei Tao, Zhang Lei, Zhang Xiankai, Tan Li, Zhu Hongmin, He Xuelian
Abstract excerpt
CNOT3 is the central component of the CCR4-NOT protein complex, which is a global regulator of RNA polymerase II transcription. Loss of function mutations in CNOT3 lead to intellectual developmental disorder with speech delay, autism, and dysmorphic facies (IDDSADF), which is very rare. Herein, we reported two novel heterozygous frameshift mutations (c.1058_1059insT and c.724delT) and one novel splice site...
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