Aspekty patogenetyczne, kliniczne i terapeutyczne wraz z poradnictwem rodzinnym w zespole kruchego chromosomu X
Pathogenic, clinical, and therapeutic aspects with family genetic counseling in fragile X syndrome

Summary/Abstract: The fragile X syndrome (FRAX syndrome) is one of the most common genetic causes of intellectual disability. In more than 99% of the patients, FRAX is associated with a dynamic mutation (the expansion of CGG repeats) in the FMR1 gene (Xq27.3). This article discusses the genetic background of the syndrome, its clinical symptoms associated with complete mutation as well as premutation in the gene (premature ovarian failure, FXPOF, in women and Fragile-X-Associated Tremor/Ataxia Syndrome, FXTAS, in men). The management and new treatment options are also presented. Particular emphasis has been placed on genetic counselling in families with the FRAX syndrome.

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