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

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

  • By

  • Carmen Manso-Bazus

  • Nino Spataro

  • Laura Plans

  • Meritxell Tomàs

  • Mercè Casadesús

  • Montserrat Pamias

  • Anna Ruiz

  • November 11, 2025

  • 0 min

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  • 1

    The study reports five patients with pathogenic variants in SHANK1, SHANK2, and SHANK3 genes, highlighting their neuropsychiatric features.

  • 2

    SHANK gene variants are associated with psychiatric comorbidities in patients with mild intellectual disability or borderline intellectual functioning.

  • 3

    Copy number variants affecting SHANK genes are linked to autism and cognitive impairment, with SHANK3 deletions being particularly notable.

  • 4

    Whole exome sequencing has facilitated the identification of pathogenic single nucleotide variants in SHANK genes among patients.

  • 5

    The prevalence of SHANK gene variants in the studied cohort was 4.3%, indicating a significant association with psychiatric disorders.

Original Source(s)

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

  • by Carmen Manso-Bazus, Nino Spataro, Laura Plans, Meritxell Tomàs, Mercè Casadesús, Montserrat Pamias, Anna Ruiz

  • November 11, 2025

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