Autism spectrum disorder and 3p24.3p23 triplication: a case report
Abstract Background The role of copy number variants as genomic mutations causative of neurodevelopmental disorders has been recently established. They can act as risk factors of conditions with multifactorial etiopathogenesis and incomplete penetrance, such as nonsyndromic autism, and, in this case...
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BMC
2025-03-01
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| Series: | Journal of Medical Case Reports |
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| Online Access: | https://doi.org/10.1186/s13256-025-05124-2 |
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| author | Martina Siracusano Maria Stellato Elisa Carloni Giulia Miccolo Assia Riccioni Romina Moavero Alessandra Voci Massimiliano Valeriani Cinzia Galasso Adele Pompili Antonio Pizzuti Laura Bernardini Marina Goldoni Luigi Mazzone |
| author_facet | Martina Siracusano Maria Stellato Elisa Carloni Giulia Miccolo Assia Riccioni Romina Moavero Alessandra Voci Massimiliano Valeriani Cinzia Galasso Adele Pompili Antonio Pizzuti Laura Bernardini Marina Goldoni Luigi Mazzone |
| author_sort | Martina Siracusano |
| collection | DOAJ |
| description | Abstract Background The role of copy number variants as genomic mutations causative of neurodevelopmental disorders has been recently established. They can act as risk factors of conditions with multifactorial etiopathogenesis and incomplete penetrance, such as nonsyndromic autism, and, in this case, are often inherited from an unaffected parent. Conversely, dominant syndromes, with high penetrance, can be caused by de novo occurring variants. Case presentation We describe the clinical case, with a detailed characterization of the neuropsychiatric profile, of an almost 3-year-old white (Italian) male child with autism spectrum disorder, developmental delay, mild dysmorphic traits, and congenital anomalies (cardiac septal defects, gliotic changes, thinned corpus callosum, and arachnoid cyst), carrying a 13 Mb de novo 3p24.3p23 triplication. Conclusion Our case suggests that the 3p24 chromosome region could be associated with a syndromic form of autism spectrum disorder and contribute to delineate its distinct clinical features. The extent of the de novo variant described herein is suggestive of pathogenicity, although the genes potentially responsible for the patient’s phenotype are not easy to identify. We hypothesize that the dysregulation of SATB1, already associated to two syndromes (developmental delay with dysmorphic facies and dental anomalies and Den Hoed−De Boer−Voisin syndrome) with a phenotypic spectrum comparable to that of our patient, could be responsible for the clinical phenotype of this case, although the exact pathogenetic mechanism remains to be determined. |
| format | Article |
| id | doaj-art-e0a7ec04b3664d0694f1c96f38ec4d18 |
| institution | DOAJ |
| issn | 1752-1947 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj-art-e0a7ec04b3664d0694f1c96f38ec4d182025-08-20T02:56:16ZengBMCJournal of Medical Case Reports1752-19472025-03-011911710.1186/s13256-025-05124-2Autism spectrum disorder and 3p24.3p23 triplication: a case reportMartina Siracusano0Maria Stellato1Elisa Carloni2Giulia Miccolo3Assia Riccioni4Romina Moavero5Alessandra Voci6Massimiliano Valeriani7Cinzia Galasso8Adele Pompili9Antonio Pizzuti10Laura Bernardini11Marina Goldoni12Luigi Mazzone13Department of Biomedicine and Prevention, University of Rome Tor VergataChild Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health, Policlinico Tor Vergata HospitalChild Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health, Policlinico Tor Vergata HospitalChild Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health, Policlinico Tor Vergata HospitalChild Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health, Policlinico Tor Vergata HospitalSystems Medicine Department, University of Rome Tor VergataDevelopmental Neurology Unit, Bambino Gesù Children’s Hospital, IRCCSSystems Medicine Department, University of Rome Tor VergataChild Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health, Policlinico Tor Vergata HospitalMedical Genetics Division, IRCCS Casa Sollievo della Sofferenza FoundationMedical Genetics Division, IRCCS Casa Sollievo della Sofferenza FoundationMedical Genetics Division, IRCCS Casa Sollievo della Sofferenza FoundationMedical Genetics Division, IRCCS Casa Sollievo della Sofferenza FoundationChild Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health, Policlinico Tor Vergata HospitalAbstract Background The role of copy number variants as genomic mutations causative of neurodevelopmental disorders has been recently established. They can act as risk factors of conditions with multifactorial etiopathogenesis and incomplete penetrance, such as nonsyndromic autism, and, in this case, are often inherited from an unaffected parent. Conversely, dominant syndromes, with high penetrance, can be caused by de novo occurring variants. Case presentation We describe the clinical case, with a detailed characterization of the neuropsychiatric profile, of an almost 3-year-old white (Italian) male child with autism spectrum disorder, developmental delay, mild dysmorphic traits, and congenital anomalies (cardiac septal defects, gliotic changes, thinned corpus callosum, and arachnoid cyst), carrying a 13 Mb de novo 3p24.3p23 triplication. Conclusion Our case suggests that the 3p24 chromosome region could be associated with a syndromic form of autism spectrum disorder and contribute to delineate its distinct clinical features. The extent of the de novo variant described herein is suggestive of pathogenicity, although the genes potentially responsible for the patient’s phenotype are not easy to identify. We hypothesize that the dysregulation of SATB1, already associated to two syndromes (developmental delay with dysmorphic facies and dental anomalies and Den Hoed−De Boer−Voisin syndrome) with a phenotypic spectrum comparable to that of our patient, could be responsible for the clinical phenotype of this case, although the exact pathogenetic mechanism remains to be determined.https://doi.org/10.1186/s13256-025-05124-23p triplication3p24.3p23AutismNeurodevelopmental disorderCase report |
| spellingShingle | Martina Siracusano Maria Stellato Elisa Carloni Giulia Miccolo Assia Riccioni Romina Moavero Alessandra Voci Massimiliano Valeriani Cinzia Galasso Adele Pompili Antonio Pizzuti Laura Bernardini Marina Goldoni Luigi Mazzone Autism spectrum disorder and 3p24.3p23 triplication: a case report Journal of Medical Case Reports 3p triplication 3p24.3p23 Autism Neurodevelopmental disorder Case report |
| title | Autism spectrum disorder and 3p24.3p23 triplication: a case report |
| title_full | Autism spectrum disorder and 3p24.3p23 triplication: a case report |
| title_fullStr | Autism spectrum disorder and 3p24.3p23 triplication: a case report |
| title_full_unstemmed | Autism spectrum disorder and 3p24.3p23 triplication: a case report |
| title_short | Autism spectrum disorder and 3p24.3p23 triplication: a case report |
| title_sort | autism spectrum disorder and 3p24 3p23 triplication a case report |
| topic | 3p triplication 3p24.3p23 Autism Neurodevelopmental disorder Case report |
| url | https://doi.org/10.1186/s13256-025-05124-2 |
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