Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia.

ABSTRACT:

Objective

We aimed to identify pathogenic variants in a girl with epilepsy, developmental delay, cerebellar ataxia, oral motor difficulty, and structural brain abnormalities with the use of whole-exome sequencing.

Methods

Whole-exome trio analysis and molecular functional studies were performed in addition to the clinical findings and neuroimaging studies.

Results

Brain MRI showed mild pachygyria, hypoplasia of the cerebellar vermis, and abnormal foliation of the cerebellar vermis, suspected for a variant in one of the genes of the Reelin pathway. Trio whole-exome sequencing and additional functional studies were performed to identify the pathogenic variants. Trio whole-exome sequencing revealed compound heterozygous splice variants in DAB1, both affecting the

SUBMITTER: Smits DJ 

PROVIDER: S-EPMC7830234 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature