Anxiety disorder is a common psychopathological comorbidity in patients with SHANK pathogenic variants: description of five new cases.

ABSTRACT:

Background

Pathogenic variants in the SHANK family genes have been linked to autism spectrum disorder, as well as to other neuropsychiatric and neurodevelopmental disorders. We aim to characterise the neurodevelopmental, neuropsychiatric and dysmorphic features of five additional patients with SHANK1 and SHANK2 and SHANK3 pathogenic variants to highlight a prevalent neuropsychiatric phenotype common to SHANK family members.

Methods

Whole exome sequencing was performed in 115 patients (aged 6-18 years) with mild intellectual disability/borderline intellectual functioning and a psychiatric comorbidity. Neurodevelopmental, clinical, psychopathological and dysmorphological features of patients with pathogenic variants in SHANK genes were collected.

Results

Intragenic path

SUBMITTER: Manso-Bazus C 

PROVIDER: S-EPMC12606811 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature