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Clinical implication of FMR1 intermediate alleles in a Spanish population

Fecha de publicación:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Alvarez-Mora, MI
  • Madrigal, I
  • Tejada, MI
  • Izquierdo-Alvarez, S
  • de Saz, PSV
  • Villate, O
  • Rodriguez-Santiago, B
  • Jurado, LAP
  • Rodriguez-Revenga, L
  • Mila, M

Grupos

Abstract

FMR1 premutation carriers (55-200 CGGs) are at risk of developing Fragile X-associated primary ovarian insufficiency as well as Fragile X-associated tremor/ataxia syndrome. FMR1 premutation alleles are also associated with a variety of disorders, including psychiatric, developmental, and neurological problems. However, there is a major concern regarding clinical implications of smaller CGG expansions known as intermediate alleles (IA) or gray zone alleles (45-54 CGG). Although several studies have hypothesized that IA may be involved in the etiology of FMR1 premutation associated phenotypes, this association still remains unclear. The aim of this study was to provide new data on the clinical implications of IA. We reviewed a total of 17 011 individuals: 1142 with primary ovarian insufficiency, 478 with movement disorders, 14 006 with neurodevelopmental disorders and 1385 controls. Similar IA frequencies were detected in all the cases and controls (cases 1.20% vs controls 1.39%, P = .427). When comparing the allelic frequencies of IA 50CGGs, a greater, albeit not statistically significant, number of alleles were detected in all the cohorts of patients. Therefore, IA below 50 CGGs should not be considered as risk factors for FMR1 premutation-associated phenotypes, at least in our population. However, the clinical implication of IA 50CGGs remains to be further elucidated.

Datos de la publicación

ISSN/ISSNe:
0009-9163, 1399-0004

CLINICAL GENETICS  WILEY

Tipo:
Article
Páginas:
153-158
Factor de Impacto:
1,679 SCImago ℠
Cuartil:
Q1 SCImago ℠

Citas Recibidas en Web of Science: 1

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Keywords

  • FMR1 intermediate alleles; genetic counseling; gray zone; movement disorders; neurodevelopmental disorders; primary ovarian insufficiency

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