Newborn baby screening for fragile X syndrome

December 20, 2012

A study into newborn screening for fragile X syndrome (FXS) demonstrates that testing for mutations in the gene FMR1 can be done on a large scale. The research, published in BioMed Central's open access journal Genome Medicine, shows that the number of carrier babies who carry the form of the gene known as the "premutation" is higher than previously estimated.

Three large hospitals in the USA participated in this study, testing more than 14,000 newborns, including children of different ethnic backgrounds. While only one child was identified with the full mutation, the team led by Dr Flora Tassone from UC Davis found that the prevalence of the premutation was higher than previously suggested, particularly for males (one in 209 females and one in 430 males).

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and autism, or autism spectrum disorder, and is caused by mutations in the gene FMR1. The mutation which causes FXS is not actually in the gene but is due to the addition of extra CGG repeats in the promoter region that controls whether the gene is switched on or off.

The full mutation of more than 200 CGG repeats prevents proper functioning of the gene and causes FXS, while premutation (55 to 200 repeats) means that the baby has a higher chance of having a child with FXS, and has an increased risk child and adult-onset disorders such as neurological complications. The impact of so called 'grey zone allele' (45 to 54 repeats) on health is currently not as clear, and is the focus of ongoing research. However, the team also found that the Caucasian group had a higher prevalence of grey zone alleles than the Hispanic and African American groups.

Dr Tassone from UC Davis who led this study explains, "Our study shows that screening newborns for FXS can be done, but we will also identify carrier and grey zone babies as well as those with a full mutation. Before newborn screening for fragile X mutations is expanded nationally, we need to better understand the impact that identification of the premutation and grey zone allele has on families and systems will need to be in place to address the counseling and educational needs that inevitably will arise."
-end-
Media contact

Dr Hilary Glover
Scientific Press Officer, BioMed Central
Tel: +44 (0) 20 3192 2370
Mob: +44 (0) 778 698 1967
Email: hilary.glover@biomedcentral.com

Notes

1. FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States Flora Tassone, Ka Pou Iong, Joyce Lo, Louise W Gane, Elizabeth Berry-Kravis, Danh Nguyen, Lisa Mu, Jennifer Laffin, Don Bailey Jr., Randi J Hagerman and Tzu-Han Tong Genome Medicine (in press)

Please name the journal in any story you write. If you are writing for the web, please link to the article. All articles are available free of charge, according to BioMed Central's open access policy.

Article citation and URL available on request on the day of publication.

2. Genome Medicine publishes peer-reviewed research articles, new methods and software tools in all areas of medicine studied from a post-genomic perspective. The journal also provides review and comment on the latest advances in translational genomics and personalized medicine, and their implications for the clinical and ethical management of human health and disease. @GenomeMedicine

3. BioMed Central (http://www.biomedcentral.com/) is an STM (Science, Technology and Medicine) publisher which has pioneered the open access publishing model. All peer-reviewed research articles published by BioMed Central are made immediately and freely accessible online, and are licensed to allow redistribution and reuse. BioMed Central is part of Springer Science+Business Media, a leading global publisher in the STM sector. @BioMedCentral

BioMed Central

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