title: [Triplet expansion cytosine-guanine-guanine: Three cases of OMIM syndrome in the same family].
abstract: BACKGROUND
  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.
  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.
  
  
  CONCLUSIONS
  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).
authors.affiliation: Unidad de Neuropediatría, Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, Spain. Electronic address: jesusgonpe@gmail.com.
authors.forename: Jesús
authors.initials: J
authors.lastname: González-Pérez
authors.affiliation: Sección de Genética Clínica y Reproducción Asistida, Servicio de Bioquímica Clínica, Hospital Universitario Miguel Servet, Zaragoza, Spain.
authors.forename: Silvia
authors.initials: S
authors.lastname: Izquierdo-Álvarez
authors.affiliation: Unidad de Neuropediatría, Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Fuertes-Rodrigo
authors.affiliation: Unidad de Neuropediatría, Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, Spain.
authors.forename: Lorena
authors.initials: L
authors.lastname: Monge-Galindo
authors.affiliation: Unidad de Neuropediatría, Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, Spain.
authors.forename: José Luis
authors.initials: JL
authors.lastname: Peña-Segura
authors.affiliation: Unidad de Neuropediatría, Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, Spain.
authors.forename: Francisco Javier
authors.initials: FJ
authors.lastname: López-Pisón
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D005819:Genetic Markers; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis / Q000235:genetics*; D014202:Tremor / Q000175:diagnosis / Q000235:genetics*; D018911:Trinucleotide Repeats
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D005819:Genetic Markers; C497683:FMR1 protein, human
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