Consensus characterization of 16 FMR1 reference materials: A consortium study

Jean Amos Wilson, Victoria M. Pratt, Amit Phansalkar, Kasinathan Muralidharan, W. Edward Highsmith, Jeanne C. Beck, Scott Bridgeman, Ebony M. Courtney, Lidia Epp, Andrea Ferreira-Gonzalez, Nick L. Hjelm, Leonard M. Holtegaard, Mohamed A. Jama, John P. Jakupciak, Monique A. Johnson, Paul Labrousse, Elaine Lyon, Thomas W. Prior, C. Sue Richards, Kristy L. RichieBenjamin B. Roa, Elizabeth M. Rohlfs, Tina Sellers, Stephanie L. Sherman, Karen A. Siegrist, Lawrence M. Silverman, Joanna Wiszniewska, Lisa V. Kalman, Aaron Bossler, Deborah Dillon, Michelle Dolan, Julie Gastier-Foster, Dan Jones, Antonia Sepulveda, Kathleen Stellrecht, Daynna A. Wolff

Research output: Contribution to journalArticlepeer-review

36 Scopus citations


Fragile X syndrome, which is caused by expansion of a (CGG)n repeat in the FMR1 gene, occurs in approximately 1:3500 males and causes mental retardation/behavioral problems. Smaller (CGG)n repeat expansions in FMR1, premutations, are associated with premature ovarian failure and fragile X-associated tremor/ataxia syndrome. An FMR1-sizing assay is technically challenging because of high GC content of the (CGG)n repeat, the size limitations of conventional PCR, and a lack of reference materials available for test development/validation and routine quality control. The Centers for Disease Control and Prevention and the Association for Molecular Pathology, together with the genetic testing community, have addressed the need for characterized fragile X mutation reference materials by developing characterized DNA samples from 16 cell lines with repeat lengths representing important phenotypic classes and diagnostic cutoffs. The alleles in these materials were characterized by consensus analysis in nine clinical laboratories. The information generated from this study is available on the Centers for Disease Control and Prevention and Coriell Cell Repositories websites. DNA purified from these cell lines is available to the genetics community through the Coriell Cell Repositories. The public availability of these reference materials should help support accurate clinical fragile X syndrome testing.

Original languageEnglish (US)
Pages (from-to)2-12
Number of pages11
JournalJournal of Molecular Diagnostics
Issue number1
StatePublished - Jan 2008

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine


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