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

ABSTRACT:

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 this study was to investigate the pathogenesis of a 6-month-old Chinese child who exhibited global developmental delay, muscle weakness, malnutrition, weight loss, and strabismus, brain abnormality, immunological system abnormalities.

Methods

The little girl was tested for medical exome sequencing (MES) and mtDNA sequencing in trio. And, the mutation was validated by

SUBMITTER: Tang S 

PROVIDER: S-EPMC10422072 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature