Newborn Screening for Fragile X Syndrome
نویسندگان
چکیده
منابع مشابه
Newborn screening for fragile X syndrome.
Fragile X syndrome (FXS), caused by a trinucleotide expansion (>200 CGG repeats) in the fragile X mental retardation gene (FMR1), is currently not included in newborn screening (NBS) panels in the United States as it does not meet the standards for recommendation. Although in the past few years FXS has met many of the criteria for population screening and studies have shown that NBS for FXS ...
متن کاملMaternal attitudes to newborn screening for fragile X syndrome.
Although fragile X syndrome (FXS) is the commonest cause of inherited intellectual disability the mean age of diagnosis in Australia is 5.5 years. Newborn screening for FXS can provide an early diagnosis, preventing the "diagnostic odyssey", allowing access to early interventions, and providing reproductive information for parents. Parents of affected children support newborn screening, but few...
متن کاملAssessing the Fragile X Syndrome Newborn Screening Landscape.
BACKGROUND Fragile X syndrome (FXS) is the most common known inherited form of intellectual disability. Early identification is an important step in linking FXS individuals with appropriate and timely medical and social services. Newborn screening (NBS) is 1 approach that has been used for other conditions to facilitate early identification. METHODS A literature review was conducted to identi...
متن کاملNewborn, carrier, and early childhood screening recommendations for fragile X.
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 ova...
متن کاملIncidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.
Fragile X syndrome (FXS) results from a CGG-repeat expansion that triggers hypermethylation and silencing of the FMR1 gene. FXS is referred to as the most common form of inherited intellectual disability, yet its true incidence has never been measured directly by large population screening. Here, we developed an inexpensive and high-throughput assay to quantitatively assess FMR1 methylation in ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: JAMA Neurology
سال: 2014
ISSN: 2168-6149
DOI: 10.1001/jamaneurol.2013.4808