Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.

ABSTRACT:

Purpose

This study aimed to delineate the genetic basis of congenital ocular motor apraxia (COMA) in patients not otherwise classifiable.

Methods

We compiled clinical and neuroimaging data of individuals from six unrelated families with distinct clinical features of COMA who do not share common diagnostic characteristics of Joubert syndrome or other known genetic conditions associated with COMA. We used exome sequencing to identify pathogenic variants and functional studies in patient-derived fibroblasts.

Results

In 15 individuals, we detected familial as well as de novo heterozygous truncating causative variants in the Suppressor of Fused (SUFU) gene, a negative regulator of the Hedgehog (HH) signaling pathway. Functional studies showed no differences in cilia occurr

SUBMITTER: Schroder S 

PROVIDER: S-EPMC7862056 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature