title: Newborn, carrier, and early childhood screening recommendations for fragile X.
abstract: Fragile X syndrome, diagnosed by Fragile X Mental Retardation 1 (FMR1) DNA testing, is the most common single-gene cause of inherited intellectual disability. The expanded CGG mutation in the FMR1 gene, once thought to have clinical significance limited to fragile X syndrome, is now well established as the cause for other fragile X-associated disorders including fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome in individuals with the premutation (carriers). The importance of early diagnostic and management issues, in conjunction with the identification of family members at risk for or affected by FMR1 mutations, has led to intense discussion about the appropriate timing for early identification of FMR1 mutations. This review includes an overview of the fragile X-associated disorders and screening efforts to date, and discussion of the advantages and barriers to FMR1 screening in newborns, during childhood, and in women of reproductive age. Comparison with screening programs for other common genetic conditions is discussed to arrive at action steps to increase the identification of families affected by FMR1 mutations.
authors.affiliation: National Fragile X Foundation, Walnut Creek, CA 94596, USA. lianeabrams@hotmail.com
authors.forename: Liane
authors.initials: L
authors.lastname: Abrams
authors.forename: Amy
authors.initials: A
authors.lastname: Cronister
authors.forename: William T
authors.initials: WT
authors.lastname: Brown
authors.forename: Flora
authors.initials: F
authors.lastname: Tassone
authors.forename: Stephanie L
authors.initials: SL
authors.lastname: Sherman
authors.forename: Brenda
authors.initials: B
authors.lastname: Finucane
authors.forename: Allyn
authors.initials: A
authors.lastname: McConkie-Rosell
authors.forename: Randi
authors.initials: R
authors.lastname: Hagerman
authors.forename: Walter E
authors.initials: WE
authors.lastname: Kaufmann
authors.forename: Jonathan
authors.initials: J
authors.lastname: Picker
authors.forename: Sarah
authors.initials: S
authors.lastname: Coffey
authors.forename: Debra
authors.initials: D
authors.lastname: Skinner
authors.forename: Vanessa
authors.initials: V
authors.lastname: Johnson
authors.forename: Robert
authors.initials: R
authors.lastname: Miller
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Berry-Kravis
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D000818:Animals; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics; D001289:Attention Deficit Disorder with Hyperactivity / Q000175:diagnosis / Q000235:genetics; D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003299:Cooperative Behavior; D004252:DNA Mutational Analysis; D042241:Early Diagnosis; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics*; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D033183:Interdisciplinary Communication; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D008957:Models, Genetic; D015997:Neonatal Screening; D010348:Patient Care Team; D016133:Polymerase Chain Reaction; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis / Q000235:genetics; D012017:Referral and Consultation; D012737:Sex Factors; D014202:Tremor / Q000175:diagnosis / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human