Screening for fmr1 expanded alleles in patients with autism spectrum disorders in Manaus, Northern Brazil
| Autor: | Jorge Frank Braga Ferreira, Cleiton Fantin, Jacqueline S. Batista |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Male Autism Spectrum Disorder dynamic mutation Autism Fragile X Mental Retardation Protein 0302 clinical medicine Neurodevelopmental disorder Intellectual disability fragile X syndrome lcsh:Science Child X chromosome Genetics Allele Multidisciplinary Genetic Screening Fmr1 Protein Human Genetic Predisposition To Disease Fragile X syndrome trinucleotide repeats Child Preschool molecular screening medicine.symptom Human congenital hereditary and neonatal diseases and abnormalities Ataxia Adolescent autism spectrum disorders Genetic Predisposition 03 medical and health sciences Young Adult medicine Humans Genetic Predisposition to Disease Genetic Testing Alleles business.industry medicine.disease FMR1 030104 developmental biology premutation Fragile X Syndrome Mutation Dynamic mutation lcsh:Q business 030217 neurology & neurosurgery |
| Zdroj: | Repositório Institucional do INPA Instituto Nacional de Pesquisas da Amazônia (INPA) instacron:INPA Anais da Academia Brasileira de Ciências, Vol 91, Iss 3 Anais da Academia Brasileira de Ciências v.91 n.3 2019 Anais da Academia Brasileira de Ciências Academia Brasileira de Ciências (ABC) instacron:ABC |
| Popis: | Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by dynamic mutations of a CGG repetition segment in an X chromosome’s single gene. It is considered the leading hereditary cause of both Autism Spectrum Disorders and Intellectual Disability. Some authors suggest that all individuals diagnosed with some of these latter conditions to be clinically and molecularly trialled for FXS due to the high levels of comorbidity between both conditions and also due to the variable expressiveness of this syndrome. This study has focused on verifying the presence of FMR1 expanded alleles since there is a lack of information about this kind of mutation in autism patients from the northern region of Brazil. The presence of large alleles for this gene could offer new therapeutic or pharmacological methods for the treatment of these patients. Both the presence and the frequency of CGG expansions were verified in 90 autism males by molecular analysis. Four of them had intermediate alleles and four others presented premutated alleles. Premutation carriers are on the propensity of developing the late onset Fragile X-associated tremor/ataxia syndrome. No full mutation alleles were found. Further studies are necessary to obtain more accurate statistical data about this kind of dynamic mutation. © 2019, Academia Brasileira de Ciencias. All rights reserved. |
| Databáze: | OpenAIRE |
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