A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review

DiscussionThe lack of correlation between mutation sites or types and phenotypes was summarized by literature reviewing. The NSD1 protein contains 14 functional domains and this nonsense mutation was located in SET domain. Early appearance of the termination codon leads to protein truncation. Haploinsufficiency of theNSD1 gene causes the overgrowth disorders.

Source: Brain and Behavior - November 1, 2023 Category: Neurology Authors: Xinting Liu, Chen Chen, Lin Wan, Gang Zhu, Yan Zhao, Lizhu Hu, Yan Liang, Jing Gao, Jing Wang, Guang Yang Tags: ORIGINAL ARTICLE Source Type: research