ArticleBioMed research international2014
Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.
Article in BioMed research international, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 13 citations in OpenAlex.
- A Randomized, Double-Blind, Placebo-Controlled Trial of Low-Dose Sertraline in Young Children With Fragile X Syndrome.Journal of developmental and behavioral pediatrics : JDBP · 2016Trial
- Phenotypic variability to medication management: an update on fragile X syndrome.Human genomics · 2023Review
- Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants inGenes · 2021Article
- Effect of AGG Interruptions onFrontiers in molecular biosciences · 2020Article
- Article
- FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile.Genetics research · 2016Article
- Serotonin dysregulation in Fragile X Syndrome: implications for treatment.Intractable & rare diseases research · 2014Review
- [Fragile X syndrome and FMR1-dependent diseases - clinical presentation, epidemiology and molecular background].Developmental period medicineReview
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Authors and funding
15 authors at 13 institutions in 1 country.
Funding
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Abstract
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.
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Registered trials
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