Journal article
Identification of males with cryptic fragile x alleles by methylation-Specific quantitative melt analysis
SM Aliaga, HR Slater, D Francis, DD Sart, X Li, DJ Amor, AM Alliende, LS Maria, V Faundes, P Morales, C Trigo, I Salas, B Curotto, DE Godler
Clinical Chemistry | Published : 2016
Abstract
BACKGROUND: FMR1 full mutations (FMs) (CGG expansion 200) in males mosaic for a normal (45 CGG) or gray-zone (GZ) (45-54 CGG) allele can be missed with the standard 2-step fragile X syndrome (FXS) testing protocols, largely because the first-line PCR tests showing a normal or GZ allele are not reflexed to the second-line test that can detect FM. METHODS: We used methylation-specific quantitative melt analysis (MS-QMA) to determine the prevalence of cryptic FM alleles in 2 independent cohorts of male patients (994 from Chile and 2392 from Australia) referred for FXS testing from 2006 to 2013. All MS-QMA- positive cases were retested with commercial triplet primed PCR, methylation-sensitive So..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
The Victorian Government's Operational Infrastructure Support Program, Murdoch Childrens Research Institute, Royal Children's Hospital Foundation. S.M. Aliaga, CONICYT, Chile's National Commission for Scientific and Technological Research; H.R. Slater, National Health and Medical Research Council development grant number 1017263. D.E. Godler, National Health and Medical Research Council development grant number 1017263, Martin & E.H. Flack Trust, Pierce Armstrong Trust, National Health and Medical Research Council project grant number 104299.