A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report.

ABSTRACT:

Background

De novo pathogenic variants in the DDX3X gene are reported to account for 1-3% of unexplained intellectual disability (ID) in females, leading to the rare disease known as DDX3X syndrome (MRXSSB, OMIM #300958). Besides ID, these patients manifest a variable clinical presentation, which includes neurological and behavioral defects, and abnormal brain MRIs.

Case presentation

We report a 10-year-old girl affected by delayed psychomotor development, delayed myelination, and polymicrogyria (PMG). We identified a novel de novo missense mutation in the DDX3X gene (c.625C > G) by whole exome sequencing (WES). The DDX3X gene encodes a DEAD-box ATP-dependent RNA-helicase broadly implicated in gene expression through regulation of mRNA metabolism. The identified mutation is

SUBMITTER: Moresco G 

PROVIDER: S-EPMC8011215 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature