TUBGCP2 variants cause lissencephaly spectrum disorders: a case report and literature review.

ABSTRACT:

Background

TUBGCP2 variants are associated with the LIS spectrum disorders, but its pathogenesis remains unclear. To retrospectively analyze the clinical features and genetic information of patients having lissencephaly spectrum disorders associated with TUBGCP2 variants.

Methods

Clinical and genetic data of a patient diagnosed with TUBGCP2-related lissencephaly spectrum disorder at the Department of Pediatric Neurology, Shengjing Hospital, in March 2022 were collected. Furthermore, we reviewed previously reported literature on patients with the same gene variation.

Results

A 6-year-old female patient presented with microcephaly (head circumference: 46 cm, Z score: <-3), narrow forehead, thick eyebrows, bulbous nose, smooth philtrum, widened and separated teeth, speec

SUBMITTER: Yu T 

PROVIDER: S-EPMC11866843 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature