The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients
| Autor: | Emanuela Andrei, Mihai Ioana, Simona Serban-Sosoi, Aurora Arghir, Ioana Streata, Magdalena Budisteanu, Andrei Pirvu, Alina Erbescu, Sorina Mihaela Papuc, Doina Ioana, Catrinel Iliescu, Mihai Gabriel Cucu, Emilia Severin |
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| Rok vydání: | 2021 |
| Předmět: |
Male
0301 basic medicine Muscle Hypotonia Adolescent alpha7 Nicotinic Acetylcholine Receptor Autism Spectrum Disorder Developmental Disabilities clinical significance phenotype variability QH426-470 Bioinformatics Article 03 medical and health sciences Epilepsy 0302 clinical medicine Seizures Intellectual Disability Chromosome Duplication Intellectual disability Genetics medicine Humans ASDs CHRNA7 duplications Child Genetics (clinical) Chromosomes Human Pair 15 chromosomal microarrays biology business.industry CHRNA7 Microarray Analysis medicine.disease Hypotonia Phenotype 030104 developmental biology Attention Deficit Disorder with Hyperactivity Schizophrenia Child Preschool Speech delay biology.protein Autism Female medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Genes, Vol 12, Iss 1025, p 1025 (2021) Genes Volume 12 Issue 7 |
| ISSN: | 2073-4425 |
| DOI: | 10.3390/genes12071025 |
| Popis: | Chromosome 15q13.3 microduplications are associated with a wide spectrum of clinical presentations ranging from normal to different neuropsychiatric conditions, such as developmental delay (DD), intellectual disability (ID), epilepsy, hypotonia, autism spectrum disorders (ASD), attention-deficit hyperactivity disorder, and schizophrenia. The smallest region of overlap for 15q13.3 duplications encompasses the Cholinergic Receptor Nicotinic Alpha 7 Subunit (CHRNA7) gene, a strong candidate for the behavioral abnormalities. We report on a series of five patients with 15q13.3 duplications detected by chromosomal microarray. The size of the duplications ranged from 378 to 537 kb, and involved the CHRNA7 gene in all patients. The most common clinical features, present in all patients, were speech delay, autistic behavior, and muscle hypotonia DD/ID was present in three patients. One patient presented epileptic seizures EEG anomalies were observed in three patients. No consistent dysmorphic features were noted. Neuroimaging studies revealed anomalies in two patients: Dandy–Walker malformation and a right temporal cyst. 15q13.3 duplications are associated with various neuropsychiatric features, including speech delay, hypotonia, ASD, and ID, also present in our patient group. Our study brings detailed clinical and molecular data from five ASD patients with 15q13.3 microduplications involving the CHRNA7 gene, contributing to the existing knowledge about the association of 15q13.3 duplications with neuropsychiatric phenotypes. |
| Databáze: | OpenAIRE |
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