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Autism spectrum disorder and 3p24.3p23 triplication: a case report
Martina Siracusano1,2, Maria Stellato3, Elisa Carloni3
1Department of Biomedicine and Prevention, University of Rome Tor Vergata, 00133, Rome, Italy. siracusanomartina@hotmail.it.
Journal of Medical Case Reports
|March 11, 2025
Summary
A de novo 3p24.3p23 triplication in a child with autism spectrum disorder suggests this region may cause syndromic autism. Further research is needed to identify specific genes and mechanisms.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Genomic Mutations
Background:
- Copy number variants are established genomic causes of neurodevelopmental disorders.
- They can be risk factors for multifactorial conditions like autism, often inherited.
- De novo variants can cause highly penetrant dominant syndromes.
Purpose of the Study:
- To report a case of autism spectrum disorder with a de novo 3p24.3p23 triplication.
- To investigate the potential role of this chromosomal region in syndromic autism.
- To delineate the clinical features associated with this specific genetic alteration.
Main Methods:
- Clinical case description of a pediatric patient.
- Detailed neuropsychiatric profile assessment.
- Characterization of a 13 Mb de novo 3p24.3p23 triplication.
Main Results:
- The patient presented with autism spectrum disorder, developmental delay, dysmorphic traits, and congenital anomalies.
- A 13 Mb de novo triplication at 3p24.3p23 was identified.
- The de novo variant's size suggests pathogenicity.
Conclusions:
- The 3p24 chromosome region may be linked to a syndromic form of autism spectrum disorder.
- Identifying specific causative genes within the triplication remains challenging.
- Dysregulation of SATB1 is hypothesized as a potential contributor to the patient's phenotype.
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