Abstract

ORMAZABAL, Mariel et al. Fragile X syndrome and other entities associated with the FMR1 gene: Study of 28 affected families. Arch. argent. pediatr. [online]. 2019, vol.117, n.3, pp.e257-e262. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2019.e257.

The fragile X syndrome occurs due to an expansion of CGG trinucleotides, called full mutation, which is found at the Xq27.3 locus of the FMR1 gene. It is the most common cause of inherited intellectual disability. Associated with autistic spectrum disorders in one third of the patients, it affects males with higher prevalence. It also leads to hypermethylation of the gene promoter, silencing it and reducing the expression levels of FMRP, a protein involved in synaptic maturation and plasticity. A lower expansion causes primary ovarian failure syndrome as well as tremor and ataxia syndrome characterized by progressive cerebellar ataxia of late onset and intention tremor. In the present case-control study we analyze the segregation of mutations of the FMR1 gene in different families and the variability of expression that led to the genetic consultation.

Keywords : Fragile X syndrome; FMR1; Intellectual disability; Primary ovarian insufficiency; Fragile X tremor ataxia syndrome.

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