Introduction: The dynamic increase in the number of triplet repeats of cytosine-guanine-guanine (CGG) in the FMR1 gene mutation is responsible for three OMIM syndromes with a distinct clinical phenotype: Fragile X syndrome (FXS) and two pathologies in adult carriers of the premutation (55-200 CGG repeats): Primary ovarian insufficiency (FXPOI) and tremor-ataxia syndrome (FXTAS) associated with FXS.
Clinical observation and methods: CGG mutation dynamics of the FMR1 gene were studied in DNA samples from peripheral blood from the index case and other relatives of first, second and third degree by TP-PCR, and the percentage methylation.
Results: Diagnosis of FXS was confirmed in three patients (21.4%), eight patients (57.1%) were confirmed in the premutation range transmitters, one male patient with full mutation/permutation mosaicism (7.1%) and two patients (14.3%) with normal study. Of the eight permutated patients, three had FXPOI and one male patient had FXTAS.
Discussion: Our study suggests the importance of making an early diagnosis of SXF in order to carry out a family study and genetic counselling, which allow the identification of new cases or premutated patients with FMR1 gene- associated syndromes (FXTAS, FXPOI).
Keywords: 1q21.1 deletion; Deleción 1q21.1.; Discapacidad intelectual; Fragile X syndrome; Fragile X-associated primary ovarian insufficiency; Fragile X-associated tremor and ataxia syndrome; Insuficiencia ovárica primaria asociada al síndrome de X-frágil; Intellectual disability; Interrupciones Adenina-Guanina-Guanina; Interruptions Adenine-Guanine-Guanine; Síndrome de X-frágil; Síndrome de temblor-ataxia asociado al síndrome de X-frágil; Triplet repeat primer-polymerase chain reaction.
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