Correlations Between Linguistic Phenotype and Genetic Alterations in Rett Syndrome
نویسندگان
چکیده
Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the MECP2 gene affecting around 1 in 10,000 female births. Clinical manifestations include severe linguistic and motor impairments that are the core of phenotype symptoms. Some patients show a moderate level of conservation of linguistic functions while others lose the use of functional verbal communication. This paper aims at correlating residual linguistic capacity, connected to breathing alterations, to specific RTT genotype. In particular, the relation between breathing alterations and the pathological severity caused by locus’mutation is investigated.
منابع مشابه
Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...
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