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Background <p>Pathogenic variants in the <i>SHANK</i> 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 <i>SHANK1</i> and <i>SHANK2</i> and <i>SHANK3</i> pathogenic variants to highlight a prevalent neuropsychiatric phenotype common to <i>SHANK</i> family members.</p> Methods <p>Whole exome sequencing was performed in 115 patients (aged 6–18&#xa0;years) with mild intellectual disability/borderline intellectual functioning and a psychiatric comorbidity. Neurodevelopmental, clinical, psychopathological and dysmorphological features of patients with pathogenic variants in <i>SHANK</i> genes were collected.</p> Results <p>Intragenic pathogenic variants in <i>SHANK1, SHANK2,</i> and <i>SHANK3</i> were identified in five patients. All patients presented significant language and motor delay and autism spectrum disorder as the most prevalent psychiatric comorbidity. Generalised anxiety disorder was present in four out of five patients, while one patient presented a non-specific anxiety disorder.</p> Conclusions <p>This study identifies five new patients with pathogenic variants in the <i>SHANK</i> genes that present generalised anxiety disorder as a common psychopathological comorbidity. Identification of the underlying genetic cause in children and adolescents with mild or borderline intellectual disability may improve their clinical management, allowing a personalized approach, and providing precise genetic counselling to the family.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月11日

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

摘要

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 pathogenic variants in SHANK1, SHANK2, and SHANK3 were identified in five patients. All patients presented significant language and motor delay and autism spectrum disorder as the most prevalent psychiatric comorbidity. Generalised anxiety disorder was present in four out of five patients, while one patient presented a non-specific anxiety disorder.

Conclusions

This study identifies five new patients with pathogenic variants in the SHANK genes that present generalised anxiety disorder as a common psychopathological comorbidity. Identification of the underlying genetic cause in children and adolescents with mild or borderline intellectual disability may improve their clinical management, allowing a personalized approach, and providing precise genetic counselling to the family.