دورية أكاديمية
أعرض في EDS

Genetic Alterations in a Large Population of Italian Patients Affected by Neurodevelopmental Disorders.

التفاصيل البيبلوغرافية
العنوان: Genetic Alterations in a Large Population of Italian Patients Affected by Neurodevelopmental Disorders.
المؤلفون: Ranieri A; CEINGE-Biotecnologie Avanzate Franco Salvatore, via G. Salvatore 486, 80145 Naples, Italy., La Monica I; CEINGE-Biotecnologie Avanzate Franco Salvatore, via G. Salvatore 486, 80145 Naples, Italy.; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, via Sergio Pansini 5, 80131 Naples, Italy., Di Iorio MR; CEINGE-Biotecnologie Avanzate Franco Salvatore, via G. Salvatore 486, 80145 Naples, Italy.; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, via Sergio Pansini 5, 80131 Naples, Italy., Lombardo B; CEINGE-Biotecnologie Avanzate Franco Salvatore, via G. Salvatore 486, 80145 Naples, Italy.; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, via Sergio Pansini 5, 80131 Naples, Italy., Pastore L; CEINGE-Biotecnologie Avanzate Franco Salvatore, via G. Salvatore 486, 80145 Naples, Italy.; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, via Sergio Pansini 5, 80131 Naples, Italy.
المصدر: Genes [Genes (Basel)] 2024 Mar 28; Vol. 15 (4). Date of Electronic Publication: 2024 Mar 28.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Basel : MDPI
مواضيع طبية MeSH: Neurodevelopmental Disorders*/genetics , DNA Copy Number Variations*/genetics , Comparative Genomic Hybridization*, Humans ; Female ; Male ; Italy ; Child ; Adolescent ; Child, Preschool
مستخلص: Neurodevelopmental disorders are a group of complex multifactorial disorders characterized by cognitive impairment, communication deficits, abnormal behaviour, and/or motor skills resulting from abnormal neural development. Copy number variants (CNVs) are genetic alterations often associated with neurodevelopmental disorders. We evaluated the diagnostic efficacy of the array-comparative genomic hybridization (a-CGH) method and its relevance as a routine diagnostic test in patients with neurodevelopmental disorders for the identification of the molecular alterations underlying or contributing to the clinical manifestations. In the present study, we analysed 1800 subjects with neurodevelopmental disorders using a CGH microarray. We identified 208 (7%) pathogenetic CNVs, 2202 (78%) variants of uncertain significance (VOUS), and 504 (18%) benign CNVs in the 1800 patients analysed. Some alterations contain genes potentially related to neurodevelopmental disorders including CHRNA7 , ANKS1B , ANKRD11 , RBFOX1 , ASTN2 , GABRG3 , SHANK2 , KIF1A SETBP1 , SNTG2 , CTNNA2 , TOP3B , CNTN4 , CNTN5 , and CNTN6 . The identification of interesting significant genes related to neurological disorders with a-CGH is therefore an essential step in the diagnostic procedure, allowing a better understanding of both the pathophysiology of these disorders and the mechanisms underlying their clinical manifestations.
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فهرسة مساهمة: Keywords: array-CGH; autism spectrum disorders; copy number variants; neurodevelopmental disorders
تواريخ الأحداث: Date Created: 20240427 Date Completed: 20240427 Latest Revision: 20240612
رمز التحديث: 20240612
مُعرف محوري في PubMed: PMC11050211
DOI: 10.3390/genes15040427
PMID: 38674362
قاعدة البيانات: MEDLINE
الوصف
تدمد:2073-4425
DOI:10.3390/genes15040427