Journal article
FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts
CM Kraan, QM Bui, M Field, AD Archibald, SA Metcalfe, LM Christie, BH Bennetts, R Oertel, MJ Smith, D du Sart, D Bruno, TL Wotton, DJ Amor, D Francis, DE Godler
Genetics in Medicine | NATURE PUBLISHING GROUP | Published : 2018
DOI: 10.1038/gim.2018.52
Abstract
Purpose: Developmental delay phenotypes have been associated with FMR1 premutation (PM: 55–200 CGG repeats) and “gray zone” (GZ: 45–54 CGG repeats) alleles. However, these associations have not been confirmed by larger studies to be useful in pediatric diagnostic or screening settings. Methods: This study determined the prevalence of PM and GZ alleles in two independent cohorts of 19,076 pediatric referrals to developmental delay diagnostic testing through Victorian Clinical Genetics Service (cohort 1: N = 10,235; cohort 2: N = 8841), compared with two independent general population cohorts (newborn screening N = 1997; carrier screening by the Victorian Clinical Genetics Service prepair prog..
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Awarded by Murdoch Children's Research Institute
Funding Acknowledgements
This study was supported by an NHMRC Early Career fellowship to C.M.K. (no. 1112934); the Victorian Government's Operational Infrastructure Support Program, with the salaries supported by NHMRC project grants (nos. 104299 and1103389 to D.E.G.); Murdoch Children's Research Institute, Royal Children's Hospital Foundation (D.E.G.); the Financial Markets Foundation for Children (Australia) (nos. 2017-361 to D.E.G., C.M.K., and D.J.A.); the Genetics of Learning Disability (GOLD) Service (T.L.W., M.F., and L.M.C.); and John Kelleher from the Fragile X Association of Australia (T.L.W.). The authors are grateful to the mothers and the staff at the John Hunter Hospital, Newcastle, Australia, for their participation in and support of the study. We also thank Richard Wesseling for designing the Access database for the collection of data and for assisting with the extraction of data for evaluation. Finally, we thank the members of the prepair carrier-screening laboratory team (Alisha Monaco, Karina Sandoval, Lisa Ward, and Melissa Chow).