Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures
Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CN...
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Frontiers Media S.A.
2020-09-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fped.2020.00550/full |
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| author | Raffaele Falsaperla Xena Giada Pappalardo Xena Giada Pappalardo Catia Romano Simona Domenica Marino Giovanni Corsello Martino Ruggieri Enrico Parano Piero Pavone |
| author_facet | Raffaele Falsaperla Xena Giada Pappalardo Xena Giada Pappalardo Catia Romano Simona Domenica Marino Giovanni Corsello Martino Ruggieri Enrico Parano Piero Pavone |
| author_sort | Raffaele Falsaperla |
| collection | DOAJ |
| description | Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CNTNAP2 gene has also been suggested to have a causative role in individuals with a wide phenotypic spectrum, including Pitt-Hopkins syndrome, cortical dysplasia–focal epilepsy syndrome, Tourette syndrome, language dysfunction, and abnormal behavioral manifestations.Case presentation: A 10-years-old boy was referred to the hospital with mild intellectual disability and language impairment. Moreover, the child exhibited minor facial features, epileptic seizures, and notable behavioral abnormalities including impulsivity, aggressivity, and hyperactivity suggestive of the diagnosis of disruptive, impulse-control and conduct disorder (CD). Array comparative genomic hybridization (CGH) revealed a copy number variant (CNV) deletion in the first intron of CNTNAP2 gene inherited from a healthy father.Conclusions: A comprehensive description of the phenotypic features of the child is provided, revealing a distinct and remarkable alteration of social behavior not previously reported in individuals affected by disorders related to CNTNAP2 gene disruptions. A possible causative link between the deletion of a non-coding regulatory region and the symptoms presented by the boy has been advanced. |
| first_indexed | 2024-12-12T05:42:28Z |
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| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-12T05:42:28Z |
| publishDate | 2020-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-62b56d05b5304c8bab8f5c1cd5280a0f2022-12-22T00:35:53ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602020-09-01810.3389/fped.2020.00550556247Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and SeizuresRaffaele Falsaperla0Xena Giada Pappalardo1Xena Giada Pappalardo2Catia Romano3Simona Domenica Marino4Giovanni Corsello5Martino Ruggieri6Enrico Parano7Piero Pavone8Unit of Neonatology, University Hospital “Policlinico-Vittorio Emanuele, ” Catania, ItalyNational Council of Research, Institute for Biomedical Research and Innovation (IRIB), Catania, ItalyDepartment of Biomedical and Biotechnological Sciences (BIOMETEC), University of Catania, Catania, ItalyUnit of Pediatrics and Pediatric Emergency, University Hospital “Policlinico-Vittorio Emanuele, ” Catania, ItalyUnit of Neonatology, University Hospital “Policlinico-Vittorio Emanuele, ” Catania, ItalyDepartment of Sciences for Health Promotion and Mother and Child Care “G. D'Alessandro, ” University of Palermo, Palermo, ItalyUnit of Pediatrics and Pediatric Emergency, University Hospital “Policlinico-Vittorio Emanuele, ” Catania, ItalyNational Council of Research, Institute for Biomedical Research and Innovation (IRIB), Catania, ItalyUnit of Pediatrics and Pediatric Emergency, University Hospital “Policlinico-Vittorio Emanuele, ” Catania, ItalyIntroduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CNTNAP2 gene has also been suggested to have a causative role in individuals with a wide phenotypic spectrum, including Pitt-Hopkins syndrome, cortical dysplasia–focal epilepsy syndrome, Tourette syndrome, language dysfunction, and abnormal behavioral manifestations.Case presentation: A 10-years-old boy was referred to the hospital with mild intellectual disability and language impairment. Moreover, the child exhibited minor facial features, epileptic seizures, and notable behavioral abnormalities including impulsivity, aggressivity, and hyperactivity suggestive of the diagnosis of disruptive, impulse-control and conduct disorder (CD). Array comparative genomic hybridization (CGH) revealed a copy number variant (CNV) deletion in the first intron of CNTNAP2 gene inherited from a healthy father.Conclusions: A comprehensive description of the phenotypic features of the child is provided, revealing a distinct and remarkable alteration of social behavior not previously reported in individuals affected by disorders related to CNTNAP2 gene disruptions. A possible causative link between the deletion of a non-coding regulatory region and the symptoms presented by the boy has been advanced.https://www.frontiersin.org/article/10.3389/fped.2020.00550/fullCNTNAP2 geneintronic copy number variantconduct disorder (CD)epilepsyintellectual disability (ID) |
| spellingShingle | Raffaele Falsaperla Xena Giada Pappalardo Xena Giada Pappalardo Catia Romano Simona Domenica Marino Giovanni Corsello Martino Ruggieri Enrico Parano Piero Pavone Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures Frontiers in Pediatrics CNTNAP2 gene intronic copy number variant conduct disorder (CD) epilepsy intellectual disability (ID) |
| title | Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures |
| title_full | Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures |
| title_fullStr | Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures |
| title_full_unstemmed | Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures |
| title_short | Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures |
| title_sort | intronic variant in cntnap2 gene in a boy with remarkable conduct disorder minor facial features mild intellectual disability and seizures |
| topic | CNTNAP2 gene intronic copy number variant conduct disorder (CD) epilepsy intellectual disability (ID) |
| url | https://www.frontiersin.org/article/10.3389/fped.2020.00550/full |
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