CHAMP1

Chromosome alignment-maintaining phosphoprotein 1 also known as zinc finger protein 828 is a protein that in humans is encoded by the CHAMP1 gene. CHAMP1 is a key component of a protein complex that has a role in facilitating homology-directed repair of DNA.

Clinical Significance

Mutations in the CHAMP1 gene are associated with a neurodevelopmental disorder characterized by intellectual disability and severe speech impairment. This condition, often referred to as CHAMP1-related neurodevelopmental disorder, arises from a pathogenic variant in one of the two copies of the gene. The majority of cases result from de novo mutations, meaning they are not inherited from the parents.
Individuals with this disorder typically present with a range of symptoms, including global developmental delay, intellectual disability, and significant speech impairment. Common behavioral issues include features consistent with autism spectrum disorder and attention-deficit/hyperactivity disorder. Other frequently reported conditions include feeding difficulties, vision problems, seizures, and hypotonia.
Diagnosis is confirmed through genetic testing. Management is supportive and tailored to the individual's symptoms, involving physical, occupational, and speech therapies, as well as educational support.