DDX25

DDX25: A Gene Linked to Neurological Disorders

Description

DDX25 is a gene that encodes a protein involved in RNA metabolism. It plays a crucial role in various cellular processes, including:

RNA splicing
RNA editing
Translation
mRNA stability

Mutations in the DDX25 gene can disrupt these processes and lead to a range of neurological disorders.

Associated Diseases

Mutations in DDX25 have been linked to several neurological disorders, including:

Aicardi-Goutières syndrome (AGS)
Rett syndrome
Infantile encephalopathy
Autism spectrum disorder (ASD)
Schizophrenia

AGS is the most common disorder associated with DDX25 mutations. It is a severe condition characterized by immune dysregulation, encephalopathy, and skin rashes.

Did you Know ?

Approximately 15% of AGS cases are caused by mutations in the DDX25 gene. This makes DDX25 one of the most common genetic causes of AGS.

WES Whole Exome Sequencing

Clinical Exome Sequencing