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ISSN 2070-8718 (Print)

2017, Number 2

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Rev Cub Gen 2017; 11 (2)

Autism secondary to a rare variant of FMR1 mosaicism. Presentation of a case

Quintana HD, Esperón ÁAA, Calixto RY, Tase VD, López RI, Merencio SL

Language: Spanish
References: 10
Page: 54-56
PDF size: 211.69 Kb.


ABSTRACT

Fragile X syndrome is the most common cause of intellectual disability and the main monogenic cause of autism spectrum disorders. In general, the genetic basis of this syndrome is a complete mutation of the FMR1 gene, and rarely a gene mosaicism. We present a 3 years old autistic male that in the molecular study of fragile X syndrome was obtained mosaic with normal alleles of 33 CGG repetitions and alleles with complete mutation in the FMR1 gene. The phenotype expression was similar to cases with complete mutation. The expressive language was very affected and behaviorally he had a good socialization. The mother with light - moderate intellectual disability is carrier of premutation of 90 CGG repetitions in the FMR1 gene. This mosaic variant of the FMR1 gene is uncommon and it shows little variability in the phenotype.


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