Newborn Baby Screening for Fragile X Syndrome
News Jan 03, 2013
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."
CRISPR Reveals New Targets for Promising Cancer DrugsNews
Novel screening method identifies new drug targets that could potentially enhance the effectiveness of PD-1 checkpoint inhibitors, a promising new class of cancer immunotherapy.READ MORE
Cell Recycling System Offers Therapeutic Entry Point for Rare Disease TreatmentNews
Scientists have demonstrated how an investigational drug works against a rare, fatal genetic disease, Niemann-Pick type C1 (NPC1).READ MORE
Big-Data Analysis Points Toward New Drug Discovery MethodNews
A research team has developed a computational method to systematically probe massive amounts of open-access data to discover new ways to use drugs, including some that have already been approved for other uses.
Comments | 0 ADD COMMENT
EMBL Course: Next Generation Sequencing: RNA Sequencing Library Preparation
Apr 23 - Apr 27, 2018
EMBO Practical Course: Microbial Metagenomics: A 360º Approach
Apr 23 - Apr 30, 2018
EMBL Conference: European Conference of Life Science Funders and Foundations
Apr 19 - Apr 20, 2018
EMBL Course: Next Generation Sequencing: Whole Genome Sequencing Library Preparation
Apr 16 - Apr 20, 2018