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Methylation Analysis in Newborn Screening for Fragile X Syndrome—Reply

Methylation Analysis in Newborn Screening for Fragile X Syndrome—Reply Letters Conflict of Interest Disclosures: Dr Godler is an inventor on patents related to COMMENT & RESPONSE the technology described in this article. No other disclosures were reported. Funding/Support: This work was supported by the Victorian Government’s Methylation Analysis in Newborn Screening Operational Infrastructure Support Program, Murdoch Childrens Research for Fragile X Syndrome Institute, Royal Childrens Hospital Foundation, National Health and Medical To the Editor In a recent issue of JAMA Neurology, Tassone pre- Research Council (NHMRC) development grant 1017263 (Drs Godler and Slater), sented arguments for and against newborn screening (NBS) E. W. Al Thrasher Award (Drs Godler and Slater), Martin and E. H. Flack Trust (Drs Godler and Slater), and NHMRC project grant 104299 (Drs Godler and for fragile X syndrome (FXS), which is caused by large CGG ex- Slater). pansion mutations (FM) in the gene FMR1. Tassone described Role of the Sponsor: The funders had no role in the preparation, review, or the drawbacks of detecting the smaller gray-zone (GZ) and approval of the manuscript, and the decision to submit the manuscript for premutation (PM) alleles, which do not cause FXS but are none- publication. theless detected by assays based on CGG-expansion sizing. A 1. Tassone http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Neurology American Medical Association

Methylation Analysis in Newborn Screening for Fragile X Syndrome—Reply

Tassone, Flora
JAMA Neurology , Volume 71 (6) – Jun 1, 2014
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Publisher
American Medical Association
Copyright
Copyright 2014 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
2168-6149
eISSN
2168-6157
DOI
10.1001/jamaneurol.2014.454
pmid
24911127
Publisher site
See Article on Publisher Site

Abstract

Letters Conflict of Interest Disclosures: Dr Godler is an inventor on patents related to COMMENT & RESPONSE the technology described in this article. No other disclosures were reported. Funding/Support: This work was supported by the Victorian Government’s Methylation Analysis in Newborn Screening Operational Infrastructure Support Program, Murdoch Childrens Research for Fragile X Syndrome Institute, Royal Childrens Hospital Foundation, National Health and Medical To the Editor In a recent issue of JAMA Neurology, Tassone pre- Research Council (NHMRC) development grant 1017263 (Drs Godler and Slater), sented arguments for and against newborn screening (NBS) E. W. Al Thrasher Award (Drs Godler and Slater), Martin and E. H. Flack Trust (Drs Godler and Slater), and NHMRC project grant 104299 (Drs Godler and for fragile X syndrome (FXS), which is caused by large CGG ex- Slater). pansion mutations (FM) in the gene FMR1. Tassone described Role of the Sponsor: The funders had no role in the preparation, review, or the drawbacks of detecting the smaller gray-zone (GZ) and approval of the manuscript, and the decision to submit the manuscript for premutation (PM) alleles, which do not cause FXS but are none- publication. theless detected by assays based on CGG-expansion sizing. A 1. Tassone

Journal

JAMA Neurology – American Medical Association

Published: Jun 1, 2014

References

  • FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States.
    Tassone, F; Iong, KP; Tong, TH
  • FMR1 CGG expansions: prevalence and sex ratios.
    Maenner, MJ; Baker, MW; Broman, KW
  • Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome.
    Hagerman, R; Hagerman, P
  • Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration.
    Chen, Y; Tassone, F; Berman, RF
  • Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.
    Cunningham, CL; Martínez Cerdeño, V; Navarro Porras, E
  • Early mitochondrial abnormalities in hippocampal neurons cultured from Fmr1 pre-mutation mouse model.
    Kaplan, ES; Cao, Z; Hulsizer, S