{Reference Type}: Case Reports
{Title}: [Triplet expansion cytosine-guanine-guanine: Three cases of OMIM syndrome in the same family].
{Author}: González-Pérez J;Izquierdo-Álvarez S;Fuertes-Rodrigo C;Monge-Galindo L;Peña-Segura JL;López-Pisón FJ;
{Journal}: Med Clin (Barc)
{Volume}: 146
{Issue}: 7
{Year}: Apr 2016 1
{Factor}: 3.2
{DOI}: 10.1016/j.medcli.2015.11.022
{Abstract}: <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).