TY - JOUR
T1 - Newborn, carrier, and early childhood screening recommendations for fragile X
AU - Abrams, Liane
AU - Cronister, Amy
AU - Brown, William T.
AU - Tassone, Flora
AU - Sherman, Stephanie L.
AU - Finucane, Brenda
AU - Rosell, Allyn Mc Conkie
AU - Hagerman, Randi
AU - Kaufmann, Walter E.
AU - Picker, Jonathan
AU - Coffey, Sarah
AU - Skinner, Debra
AU - Johnson, Vanessa
AU - Miller, Robert
AU - Berry-Kravis, Elizabeth
PY - 2012/12
Y1 - 2012/12
N2 - 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.
AB - 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.
KW - FMR1 mutations
KW - Fragile X syndrome
KW - Fragile X-associated disorders
KW - Genetic screening
KW - Genetic testing recommendations
KW - Newborn screening
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U2 - 10.1542/peds.2012-0693
DO - 10.1542/peds.2012-0693
M3 - Review article
C2 - 23129072
AN - SCOPUS:84870539485
SN - 0031-4005
VL - 130
SP - 1126
EP - 1135
JO - Pediatrics
JF - Pediatrics
IS - 6
ER -