Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients.

ABSTRACT:

Objectives

To analyze the clinical and genetic characteristics of children with autosomal dominant neurodevelopmental disorders caused by kinesin family member 1A (KIF1A) gene variation.

Methods

Clinical and genetic testing data of 6 children with KIF1A gene de novo heterozygous variation diagnosed in Shanghai Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine from the year 2018 to 2020 were retrospectively analyzed. Pathogenic variants were identified based on whole exome sequencing, and verified by Sanger sequencing. Moreover, the effect of variants on three-dimensional structure and stability of protein was analyzed by bioinformatics.

Results

Among 6 patients there were 4 males and 2 females, and the age of consul

SUBMITTER: Lin J 

PROVIDER: S-EPMC10764188 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature