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

ConclusionWe described a 6-month-old Chinese child with global developmental delay caused by pathogenic de novo mutation c.1845_1870del26 (p.G616Sfs*61) in theSON. Apart from a founder mutation, we reviewed the phenotypic abnormalities and genotypes in 79 individuals. The data showed that global developmental delay is accompanied by other system disorders. Our findings expanded the mutational spectrum of ZTTK syndrome and provide genetic counseling of baby with global developmental delay.

Source: Molecular Genetics & Genomic Medicine - July 25, 2023 Category: Genetics & Stem Cells Authors: Shuo Tang, Jieyu You, Li Liu, Hongjuan Ouyang, Na Jiang, Jiaqi Duan, Canlin Li, Yanhong Luo, Wenting Zhang, Meizheng Zhan, Chenxi Liu, Gui ‐Zhen Lyu, Victor Wei Zhang, Hongmei Zhao Tags: CLINICAL REPORT Source Type: research