NRXN1 Deletion in Two Twins’ Genotype and Phenotype: A Clinical Case and Literature Review
In the literature, deletions in the 2p16.3 region of the neurexin gene (NRXN1) are associated with cognitive impairment, and other neuropsychiatric disorders, such as schizophrenia, autism, and Pitt–Hopkins-like syndrome 2. In this paper, we present twins with deletion 2p16.3 of the NRXN1 gene using...
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MDPI AG
2022-05-01
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| Series: | Children |
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| Online Access: | https://www.mdpi.com/2227-9067/9/5/698 |
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| author | Monica Sciacca Lidia Marino Giovanna Vitaliti Raffaele Falsaperla Silvia Marino |
| author_facet | Monica Sciacca Lidia Marino Giovanna Vitaliti Raffaele Falsaperla Silvia Marino |
| author_sort | Monica Sciacca |
| collection | DOAJ |
| description | In the literature, deletions in the 2p16.3 region of the neurexin gene (NRXN1) are associated with cognitive impairment, and other neuropsychiatric disorders, such as schizophrenia, autism, and Pitt–Hopkins-like syndrome 2. In this paper, we present twins with deletion 2p16.3 of the NRXN1 gene using a comparative genomic hybridization array. The two children had a dual diagnosis consisting of mild cognitive impairment and neurodevelopmental delay. Furthermore, they showed a dysmorphic phenotype characterized by facio-cranial disproportion, turricephalus, macrocrania, macrosomia, strabismus, and abnormal conformation of both auricles with low implantation. The genetic analysis of the family members showed the presence, in the father’s genetic test, of a microdeletion of the short arm of chromosome 2, in the 2p16.3 region. Our case report can expand the knowledge on the genotype–phenotype association in carriers of 2p16.3 deletion and for genetic counseling that could help in the prevention and eventual treatment of this genetic condition. Newborn carriers should undergo neurobehavioral follow-ups for timely detection of warning signs. |
| first_indexed | 2024-03-10T03:08:50Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-10T03:08:50Z |
| publishDate | 2022-05-01 |
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| record_format | Article |
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| spelling | doaj.art-8be9407c5dfb43bf8a0bb306795c11bc2023-11-23T10:31:05ZengMDPI AGChildren2227-90672022-05-019569810.3390/children9050698NRXN1 Deletion in Two Twins’ Genotype and Phenotype: A Clinical Case and Literature ReviewMonica Sciacca0Lidia Marino1Giovanna Vitaliti2Raffaele Falsaperla3Silvia Marino4Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, 95100 Catania, ItalyDepartment of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, 95100 Catania, ItalySection of Pediatrics, Department of Medical Sciences, Sant’Anna University Hospital, University of Ferrara, 44121 Ferrara, ItalyNeonatal Intensive Care Unit, AOU “Policlinico”, PO “San Marco”, University of Catania, 95100 Catania, ItalyUnit of Pediatrics and Pediatric Emergency, AOU “Policlinico”, PO “San Marco”, University of Catania, 95100 Catania, ItalyIn the literature, deletions in the 2p16.3 region of the neurexin gene (NRXN1) are associated with cognitive impairment, and other neuropsychiatric disorders, such as schizophrenia, autism, and Pitt–Hopkins-like syndrome 2. In this paper, we present twins with deletion 2p16.3 of the NRXN1 gene using a comparative genomic hybridization array. The two children had a dual diagnosis consisting of mild cognitive impairment and neurodevelopmental delay. Furthermore, they showed a dysmorphic phenotype characterized by facio-cranial disproportion, turricephalus, macrocrania, macrosomia, strabismus, and abnormal conformation of both auricles with low implantation. The genetic analysis of the family members showed the presence, in the father’s genetic test, of a microdeletion of the short arm of chromosome 2, in the 2p16.3 region. Our case report can expand the knowledge on the genotype–phenotype association in carriers of 2p16.3 deletion and for genetic counseling that could help in the prevention and eventual treatment of this genetic condition. Newborn carriers should undergo neurobehavioral follow-ups for timely detection of warning signs.https://www.mdpi.com/2227-9067/9/5/698childrenneurexinNRXN1neurodevelopmental delaygenetic analysis |
| spellingShingle | Monica Sciacca Lidia Marino Giovanna Vitaliti Raffaele Falsaperla Silvia Marino NRXN1 Deletion in Two Twins’ Genotype and Phenotype: A Clinical Case and Literature Review Children children neurexin NRXN1 neurodevelopmental delay genetic analysis |
| title | NRXN1 Deletion in Two Twins’ Genotype and Phenotype: A Clinical Case and Literature Review |
| title_full | NRXN1 Deletion in Two Twins’ Genotype and Phenotype: A Clinical Case and Literature Review |
| title_fullStr | NRXN1 Deletion in Two Twins’ Genotype and Phenotype: A Clinical Case and Literature Review |
| title_full_unstemmed | NRXN1 Deletion in Two Twins’ Genotype and Phenotype: A Clinical Case and Literature Review |
| title_short | NRXN1 Deletion in Two Twins’ Genotype and Phenotype: A Clinical Case and Literature Review |
| title_sort | nrxn1 deletion in two twins genotype and phenotype a clinical case and literature review |
| topic | children neurexin NRXN1 neurodevelopmental delay genetic analysis |
| url | https://www.mdpi.com/2227-9067/9/5/698 |
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