Consensus characterization of 16 FMR1 reference materials

A consortium study

Jean Amos Wilson, Victoria M. Pratt, Amit Phansalkar, Kasinathan Muralidharan, W Edward Jr. 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. Richie & 16 others Benjamin 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 journalArticle

31 Citations (Scopus)

Abstract

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
Volume10
Issue number1
DOIs
StatePublished - Jan 2008

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Fragile X Syndrome
Centers for Disease Control and Prevention (U.S.)
Consensus
Primary Ovarian Insufficiency
Cell Line
Molecular Pathology
DNA
Base Composition
Genetic Testing
Intellectual Disability
Quality Control
Alleles
Polymerase Chain Reaction
Mutation
Genes
Fragile X Tremor Ataxia Syndrome
Problem Behavior

ASJC Scopus subject areas

  • Molecular Biology

Cite this

Wilson, J. A., Pratt, V. M., Phansalkar, A., Muralidharan, K., Highsmith, W. E. J., Beck, J. C., ... Wolff, D. A. (2008). Consensus characterization of 16 FMR1 reference materials: A consortium study. Journal of Molecular Diagnostics, 10(1), 2-12. https://doi.org/10.2353/jmoldx.2008.070105

Consensus characterization of 16 FMR1 reference materials : A consortium study. / Wilson, Jean Amos; Pratt, Victoria M.; Phansalkar, Amit; Muralidharan, Kasinathan; Highsmith, W Edward Jr.; Beck, Jeanne C.; Bridgeman, Scott; Courtney, Ebony M.; Epp, Lidia; Ferreira-Gonzalez, Andrea; Hjelm, Nick L.; Holtegaard, Leonard M.; Jama, Mohamed A.; Jakupciak, John P.; Johnson, Monique A.; Labrousse, Paul; Lyon, Elaine; Prior, Thomas W.; Richards, C. Sue; Richie, Kristy L.; Roa, Benjamin B.; Rohlfs, Elizabeth M.; Sellers, Tina; Sherman, Stephanie L.; Siegrist, Karen A.; Silverman, Lawrence M.; Wiszniewska, Joanna; Kalman, Lisa V.; Bossler, Aaron; Dillon, Deborah; Dolan, Michelle; Gastier-Foster, Julie; Jones, Dan; Sepulveda, Antonia; Stellrecht, Kathleen; Wolff, Daynna A.

In: Journal of Molecular Diagnostics, Vol. 10, No. 1, 01.2008, p. 2-12.

Research output: Contribution to journalArticle

Wilson, JA, Pratt, VM, Phansalkar, A, Muralidharan, K, Highsmith, WEJ, Beck, JC, Bridgeman, S, Courtney, EM, Epp, L, Ferreira-Gonzalez, A, Hjelm, NL, Holtegaard, LM, Jama, MA, Jakupciak, JP, Johnson, MA, Labrousse, P, Lyon, E, Prior, TW, Richards, CS, Richie, KL, Roa, BB, Rohlfs, EM, Sellers, T, Sherman, SL, Siegrist, KA, Silverman, LM, Wiszniewska, J, Kalman, LV, Bossler, A, Dillon, D, Dolan, M, Gastier-Foster, J, Jones, D, Sepulveda, A, Stellrecht, K & Wolff, DA 2008, 'Consensus characterization of 16 FMR1 reference materials: A consortium study', Journal of Molecular Diagnostics, vol. 10, no. 1, pp. 2-12. https://doi.org/10.2353/jmoldx.2008.070105
Wilson JA, Pratt VM, Phansalkar A, Muralidharan K, Highsmith WEJ, Beck JC et al. Consensus characterization of 16 FMR1 reference materials: A consortium study. Journal of Molecular Diagnostics. 2008 Jan;10(1):2-12. https://doi.org/10.2353/jmoldx.2008.070105
Wilson, Jean Amos ; Pratt, Victoria M. ; Phansalkar, Amit ; Muralidharan, Kasinathan ; Highsmith, W Edward Jr. ; Beck, Jeanne C. ; Bridgeman, Scott ; Courtney, Ebony M. ; Epp, Lidia ; Ferreira-Gonzalez, Andrea ; Hjelm, Nick L. ; Holtegaard, Leonard M. ; Jama, Mohamed A. ; Jakupciak, John P. ; Johnson, Monique A. ; Labrousse, Paul ; Lyon, Elaine ; Prior, Thomas W. ; Richards, C. Sue ; Richie, Kristy L. ; Roa, Benjamin B. ; Rohlfs, Elizabeth M. ; Sellers, Tina ; Sherman, Stephanie L. ; Siegrist, Karen A. ; Silverman, Lawrence M. ; Wiszniewska, Joanna ; Kalman, Lisa V. ; Bossler, Aaron ; Dillon, Deborah ; Dolan, Michelle ; Gastier-Foster, Julie ; Jones, Dan ; Sepulveda, Antonia ; Stellrecht, Kathleen ; Wolff, Daynna A. / Consensus characterization of 16 FMR1 reference materials : A consortium study. In: Journal of Molecular Diagnostics. 2008 ; Vol. 10, No. 1. pp. 2-12.
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AU - Phansalkar, Amit

AU - Muralidharan, Kasinathan

AU - Highsmith, W Edward Jr.

AU - Beck, Jeanne C.

AU - Bridgeman, Scott

AU - Courtney, Ebony M.

AU - Epp, Lidia

AU - Ferreira-Gonzalez, Andrea

AU - Hjelm, Nick L.

AU - Holtegaard, Leonard M.

AU - Jama, Mohamed A.

AU - Jakupciak, John P.

AU - Johnson, Monique A.

AU - Labrousse, Paul

AU - Lyon, Elaine

AU - Prior, Thomas W.

AU - Richards, C. Sue

AU - Richie, Kristy L.

AU - Roa, Benjamin B.

AU - Rohlfs, Elizabeth M.

AU - Sellers, Tina

AU - Sherman, Stephanie L.

AU - Siegrist, Karen A.

AU - Silverman, Lawrence M.

AU - Wiszniewska, Joanna

AU - Kalman, Lisa V.

AU - Bossler, Aaron

AU - Dillon, Deborah

AU - Dolan, Michelle

AU - Gastier-Foster, Julie

AU - Jones, Dan

AU - Sepulveda, Antonia

AU - Stellrecht, Kathleen

AU - Wolff, Daynna A.

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