Newborn screening in Fragile X syndrome

Authors: Tassone, F.; Hagerman, P. J.; Hagerman, R. J.

Source: Journal of Intellectual Disability Research, Volume 52, Number 10, October 2008 , pp. 814-814(1)

Buy & download fulltext article:

Price: $48.00 plus tax (Refund Policy)

Abstract:

Background: Screening for the FMR1 mutations has been a topic of considerable discussion since the FMR1 gene was identified. However, Fragile X has not been recommended for newborn screening mainly because of the lack of an accurate screening test and of data on potential benefits. We have recently developed an improved Polymerase Chain Reaction (PCR) method for the identification of premutation and full mutation alleles for the FMR1 gene. Method: The method is inexpensive, accurate and quick and can be performed on a number of sample templates including, importantly, blood spots. We have applied this method for international screening. Specifically, we have screened 5267 anonymous blood spot samples from newborn males from the centre-northwest region of Spain. We have also used this technology to a pilot `high risk' screening program of individuals with autism and/or intellectual disabilities and family members of a proband with fragile X initiated in Guatemala. This project is a prototype for future screening endeavours. Results: One important outcome from this study is that the frequency of premutation alleles (1 per 250) appears to be higher than previously reported. This is of importance, especially in view of the different phenotypic involvement observed in carriers of premutation alleles, including neurological problems such as FXTAS. Here, we present data on the frequency of premutation/full alleles found in this population and their size distribution. Conclusion: This project is a prototype for future screening endeavours. Results from our pilot program in both Spain and Guatemala will lend strong support for implementing this technology for rapid screening to a much larger scale population screening.

Keywords: Fragile X; FXTAS; newborn screening

Document Type: Research article

DOI: http://dx.doi.org/10.1111/j.1365-2788.2008.01119_10.x

Publication date: 2008-10-01

Newborn screening in Fragile X syndrome

Buy & download fulltext article:

Tools

Key

Text size:

Useful pages