A nonsense CC2D1A variant is associated with congenital anomalies, motor delay, hypotonia, and slight deformities.

ABSTRACT:

Background

Autosomal recessive intellectual developmental disorder-3 is caused by homozygous or compound heterozygous mutations in the CC2D1A gene. The disorder is characterized by intellectual disability (ID) and autism spectrum disorder (ASD). To date, 39 patients from 17 families with CC2D1A -related disorders have been reported worldwide, in whom only six pathogenic or likely pathogenic loss-of-function variants and three variants of uncertain significance (VUS) in the CC2D1A gene have been identified in these patients.

Methods

We described a patient with ID from a non-consanguineous Chinese family and whole-exome sequencing (WES) was used to identify the causative gene.

Results

The patient presented with severe ID and ASD, speech impairment,

SUBMITTER: Yi S 

PROVIDER: S-EPMC10944275 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature