Case report
Familial case with autism spectrum and bipolar disorder showing a 20q11.21 microduplication including TM9SF4
Bibliographic Data
| ID | 15521941 |
|---|---|
| Authors | Marly Simoncini (0000-0002-4133-888X, University of Pisa), Miriam Violi (0000-0001-5088-3372, University of Pisa), Angelo Valetto (0000-0003-2447-9952, Azienda Ospedaliera Universitaria Pisana, corresponding author), Veronica Bertini (0000-0001-6479-7459, Azienda Ospedaliera Universitaria Pisana), F Cruz-Sanabria (0000-0001-5807-6399, University of Pisa), Leonardo Massoni (0000-0002-2189-0132, University of Pisa), Liliana Dell’Osso (0000-0002-9841-5030, University of Pisa), Claudia Carmassi (0000-0002-3662-8073, University of Pisa) |
| Year | 2023 |
| Volume | 14 |
| Publication date | 2023-11-23 |
| Peer Reviewed | Yes |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Frontiers in Psychiatry (JOURNAL) |
| Journal identifiers | ISSN: 1664-0640 • E-ISSN: 1664-0640 |
| Publisher | Frontiers Media (PUBLISHER • CH) |
| DOI | 10.3389/fpsyt.2023.1240663 |
| OpenAlex | W4388941611 |
| Language | EN |
| References cited | 36 |
Autism spectrum disorder (ASD) is characterized by multifactorial etiology and high heritability but can be challenging to be diagnosed, especially in cases presenting subthreshold symptoms with no cognitive or language impairment, which may not be identified until adulthood but may occur in family members of subjects with ASD. This study explores the possible correlation between a genomic imbalance and clinical phenotypes in a family case of a proband with ASD, with subjects presenting full-blown or subthreshold ASD and/or mood disorders. Clinical assessments were carried out by means of the Structured Clinical Interview for DSM-5 (SCID-5) disorders, Autism Spectrum Quotient (AQ), Autism Diagnostic Interview–Revised (ADI-R), Autism Diagnostic Observation Schedule Module 2 (ADOS-2), and Adult Autism Subthreshold Spectrum (AdAS Spectrum). The genetic evaluation included array comparative genomic hybridization (array-CGH). The proband was diagnosed with ASD and bipolar disorder type I (BD-I), her twin brothers with ASD and intellectual disability (ID), and her father and sister with BD type II (BD-II) and autism traits. The proband, her father, twin brothers, and older sister showed a microduplication of 350 kb in 20q11.21. In contrast, the proband’s mother did not present the microduplication or any mental disorder. This study reports a microduplication that segregates with family members affected by ASD or autistic traits comorbid in some cases with bipolar disorder, and that has never been reported in healthy subjects. Among the genes harbored in this region, the TM9SF4 gene has been recently implicated in risk for ASD
Autism · Autism Diagnostic Observation Schedule · Autism spectrum disorder · Bipolar disorder · Gene · Heritability · Mood · Mutation · Pervasive developmental disorder · Proband · Psychiatry · Twin study · Autism Spectrum Disorder Research · Clinical Psychology · Genetics and Neurodevelopmental Disorders · Genomic variations and chromosomal abnormalities · Medicine · Psychology · Genetics
| Citation velocity | historical |
|---|---|
| Highly cited | No |