%0 Case Reports
%T [Triplet expansion cytosine-guanine-guanine: Three cases of OMIM syndrome in the same family].
%A González-Pérez J
%A Izquierdo-Álvarez S
%A Fuertes-Rodrigo C
%A Monge-Galindo L
%A Peña-Segura JL
%A López-Pisón FJ
%J Med Clin (Barc)
%V 146
%N 7
%D Apr 2016 1
%M 26776484
%F 3.2
%R 10.1016/j.medcli.2015.11.022
%X <B>BACKGROUND: </B>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.<BR><B>UNASSIGNED: </B>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.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>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).