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Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient.

Molecular genetics & genomic medicine - 1 Aug 2023

Tang Shuo, You Jieyu, Liu Li, Ouyang Hongjuan, Jiang Na, Duan Jiaqi, Li Canlin, Luo Yanhong, Zhang Wenting, Zhan Meizheng, Liu Chenxi, Lyu Gui-Zhen, Zhang Victor Wei, Zhao Hongmei

Abstract excerpt

BACKGROUND: Zhu-Tokita-Takenouchi-Kim (ZTTK, OMIM 617140) syndrome is a severe multisystem developmental disorder characterized by intellectual disability, developmental delay, cortical malformations, epilepsy, visual problems, musculoskeletal abnormalities, and congenital malformations. ZTTK syndrome is caused by a heterozygous pathogenic variant of the SON gene (NM_138927) at chromosome 21q22.1. The purpose of...

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PMID: 37488749
DOI: 10.1002/mgg3.2188
PMCID: PMC10422072

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