Genetic Alterations in a Large Population of Italian Patients Affected by Neurodevelopmental Disorders.
Genes (Basel)
; 15(4)2024 03 28.
Article
en En
| MEDLINE
| ID: mdl-38674362
ABSTRACT
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Hibridación Genómica Comparativa
/
Variaciones en el Número de Copia de ADN
/
Trastornos del Neurodesarrollo
Límite:
Adolescent
/
Child
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Child, preschool
/
Female
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Humans
/
Male
País/Región como asunto:
Europa
Idioma:
En
Revista:
Genes (Basel)
Año:
2024
Tipo del documento:
Article
País de afiliación:
Italia