Molecular Testing for Fragile X : Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain
Joint Authors
Calvo, María-Teresa
Milà, Montserrat
Ayuso, Carmen
Hernández-Chico, Concepción
Tejada, María-Isabel
Martínez, Francisco
Glover, Guillermo
Ramos-Arroyo, María-Antonia
Guitart, Miriam
Fernández-Carvajal, Isabel
de Diego-Otero, Yolanda
Maortua, Hiart
Rosell, Jordi
Ramos, Feliciano J.
Pintado, Elizabet
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-05-28
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
Fragile X syndrome is the most common inherited form of intellectual disability.
Here we report on a study based on a collaborative registry, involving 12 Spanish centres, of molecular diagnostic tests in 1105 fragile X families comprising 5062 individuals, of whom, 1655 carried a full mutation or were mosaic, three cases had deletions, 1840 had a premutation, and 102 had intermediate alleles.
Two patients with the full mutation also had Klinefelter syndrome.
We have used this registry to assess the risk of expansion from parents to children.
From mothers with premutation, the overall rate of allele expansion to full mutation is 52.5%, and we found that this rate is higher for male than female offspring (63.6% versus 45.6%; P<0.001).
Furthermore, in mothers with intermediate alleles (45–54 repeats), there were 10 cases of expansion to a premutation allele, and for the smallest premutation alleles (55–59 repeats), there was a 6.4% risk of expansion to a full mutation, with 56 repeats being the smallest allele that expanded to a full mutation allele in a single meiosis.
Hence, in our series the risk for alleles of <59 repeats is somewhat higher than in other published series.
These findings are important for genetic counselling.
American Psychological Association (APA)
Tejada, María-Isabel& Glover, Guillermo& Martínez, Francisco& Guitart, Miriam& de Diego-Otero, Yolanda& Fernández-Carvajal, Isabel…[et al.]. 2014. Molecular Testing for Fragile X : Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain. BioMed Research International،Vol. 2014, no. 2014, pp.1-8.
https://search.emarefa.net/detail/BIM-453631
Modern Language Association (MLA)
Tejada, María-Isabel…[et al.]. Molecular Testing for Fragile X : Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain. BioMed Research International No. 2014 (2014), pp.1-8.
https://search.emarefa.net/detail/BIM-453631
American Medical Association (AMA)
Tejada, María-Isabel& Glover, Guillermo& Martínez, Francisco& Guitart, Miriam& de Diego-Otero, Yolanda& Fernández-Carvajal, Isabel…[et al.]. Molecular Testing for Fragile X : Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain. BioMed Research International. 2014. Vol. 2014, no. 2014, pp.1-8.
https://search.emarefa.net/detail/BIM-453631
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-453631