Journal article
Clinical and Molecular differences between 4-year-old Monozygous male Twins mosaic for normal, Premutation and Fragile X full Mutation Alleles
A Pandelache, EK Baker, SM Aliaga, M Arpone, R Forbes, Z Stark, D Francis, DE Godler
Genes | MDPI | Published : 2019
Abstract
This study describes monozygotic (MZ) male twins with fragile X syndrome (FXS), mosaic for normal size (NS: <44 CGGs), premutation (PM: 55–199 CGG) and full mutation (FM alleles ≥ 200) alleles, with autism. At 4 years of age chromosomal microarray confirmed monozygosity with both twins showing an XY sex complement. Normal size (30 CGG), PM (99 CGG) and FM (388–1632 CGGs) alleles were detected in Twin 1 (T1) by standard polymerase chain reaction (PCR) and Southern blot testing, while only PM (99 CGG) and FM (672–1025) alleles were identified in Twin 2 (T2). At ~5 years, T2 had greater intellectual impairments with a full scale IQ (FSIQ) of 55 and verbal IQ (VIQ) of 59, compared to FSIQ of 62 ..
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Awarded by Financial Markets Foundation for Children
Funding Acknowledgements
This work was funded by The Victorian Government's Operational Infrastructure Support Program, Murdoch Children's Research Institute, Royal Children's Hospital Foundation, Martin & E.H. Flack Trust, Pierce Armstrong Trust, Financial Markets Foundation for Children (Australia) (FMFC; grant number: 2017-361) and the National Health and Medical Research Council (NHMRC; project grant numbers: 1049299 and 1103389). D.E. Godler was supported by the Next Generation Clinical Researchers Program-Career Development Fellowship Funded by the Medical Research Future Fund (grant number 1141334). M.A. was supported by the International Postgraduate Research Scholarship (IPRS) and the Research Training Program Fee offset scholarship funded by the Australian Government and awarded by the University of Melbourne, and in part by the Diagnosis and Development group of the Murdoch Children's Research Institute.