Novel compound heterozygous GPR56 gene mutation in a twin with lissencephaly: A case report.

ABSTRACT:

Background

Lissencephaly (LIS) is a malformation of cortical development with broad gyri, shallow sulci and thickened cortex characterized by developmental delays and seizures. Currently, 20 genes have been implicated in LIS. However, GRP56-related LIS has never been reported. GRP56 is considered one of the causative genes for bilateral frontoparietal polymicrogyria. Here, we report a twin infant with LIS and review the relevant literature. The twins both carried the novel compound heterozygous GPR56 mutations.

Case summary

A 5-mo-old female infant was hospitalized due to repeated convulsions for 1 d. The patient had a flat head deformity that manifested as developmental delays and a sudden onset of generalized tonic-clonic seizures at 5 mo without any c

SUBMITTER: Lin WX 

PROVIDER: S-EPMC8771398 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature