Screening for fmr1 expanded alleles in patients with autism spectrum disorders in Manaus, Northern Brazil

• Main Author: Ferreira, Jorge Frank B.
• Publication Date: 2019
• Other Authors: Batista, Jacqueline S., Fantin, Cleiton
• Format: Article
• Language: eng
• Source: Repositório Institucional do INPA
• Download full: https://repositorio.inpa.gov.br/handle/1/14886
• topic: Fmr1 Protein, Human; Fragile X Mental Retardation Protein; Adolescent; Allele; Autism; Child; Fragile X Syndrome; Genetic Predisposition; Genetic Screening; Genetics; Human; Male; Mutation; Child, Preschool; Young Adult; Adolescent; Alleles; Autism Spectrum Disorder; Child; Child, Preschool; Fragile X Mental Retardation Protein; Fragile X Syndrome; Genetic Predisposition To Disease; Genetic Testing; Humans; Male; Mutation; Young Adult

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.