title: Consensus characterization of 16 FMR1 reference materials: a consortium study.
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.
authors.affiliation: Sequenom, San Diego, California, USA.
authors.forename: Jean
authors.initials: J
authors.lastname: Amos Wilson
authors.forename: Victoria M
authors.initials: VM
authors.lastname: Pratt
authors.forename: Amit
authors.initials: A
authors.lastname: Phansalkar
authors.forename: Kasinathan
authors.initials: K
authors.lastname: Muralidharan
authors.forename: W Edward
authors.initials: WE
authors.lastname: Highsmith
authors.forename: Jeanne C
authors.initials: JC
authors.lastname: Beck
authors.forename: Scott
authors.initials: S
authors.lastname: Bridgeman
authors.forename: Ebony M
authors.initials: EM
authors.lastname: Courtney
authors.forename: Lidia
authors.initials: L
authors.lastname: Epp
authors.forename: Andrea
authors.initials: A
authors.lastname: Ferreira-Gonzalez
authors.forename: Nick L
authors.initials: NL
authors.lastname: Hjelm
authors.forename: Leonard M
authors.initials: LM
authors.lastname: Holtegaard
authors.forename: Mohamed A
authors.initials: MA
authors.lastname: Jama
authors.forename: John P
authors.initials: JP
authors.lastname: Jakupciak
authors.forename: Monique A
authors.initials: MA
authors.lastname: Johnson
authors.forename: Paul
authors.initials: P
authors.lastname: Labrousse
authors.forename: Elaine
authors.initials: E
authors.lastname: Lyon
authors.forename: Thomas W
authors.initials: TW
authors.lastname: Prior
authors.forename: C Sue
authors.initials: CS
authors.lastname: Richards
authors.forename: Kristy L
authors.initials: KL
authors.lastname: Richie
authors.forename: Benjamin B
authors.initials: BB
authors.lastname: Roa
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Rohlfs
authors.forename: Tina
authors.initials: T
authors.lastname: Sellers
authors.forename: Stephanie L
authors.initials: SL
authors.lastname: Sherman
authors.forename: Karen A
authors.initials: KA
authors.lastname: Siegrist
authors.forename: Lawrence M
authors.initials: LM
authors.lastname: Silverman
authors.forename: Joanna
authors.initials: J
authors.lastname: Wiszniewska
authors.forename: Lisa V
authors.initials: LV
authors.lastname: Kalman
mesh_terms: D000483:Alleles; D001483:Base Sequence; D001681:Biological Assay; D015139:Blotting, Southern; D002460:Cell Line; D032921:Consensus; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D012015:Reference Standards; D017422:Sequence Analysis, DNA; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human