ABSTRACT
PURPOSE: Folate insufficiency due to nutritional deficiency or folate processing gene mutations has been proposed as a trisomy 21 risk factor. This study examined the possibility that increased folic acid intake among women of childbearing age may decrease the prevalence of trisomy 21 and other aneuploidies. METHODS: The prevalence of aneuploidies from 1990 through 1999 was compared with folic acid use in women of childbearing age in South Carolina. RESULTS: Folic acid use and the prevalence of all aneuploidies significantly increased during this period. CONCLUSION: Increased folic acid utilization in South Carolina was not associated with decreased prevalence of trisomy 21 or other aneuploidies.
Subject(s)
Aneuploidy , Folic Acid/pharmacology , Cross-Sectional Studies , Down Syndrome/epidemiology , Female , Folic Acid/metabolism , Humans , Maternal Age , Pregnancy , South Carolina/epidemiologyABSTRACT
A family with X-linked mental retardation characterized by severe mental retardation, speech and behavioral abnormalities, and seizures in affected male patients has been found to have a G1141C transversion in the creatine-transporter gene SLC6A8. This mutation results in a glycine being replaced by an arginine (G381R) and alternative splicing, since the G-->C transversion occurs at the -1 position of the 5' splice junction of intron 7. Two female relatives who are heterozygous for the SLC6A8 mutation also exhibit mild mental retardation with behavior and learning problems. Male patients with the mutation have highly elevated creatine in their urine and have decreased creatine uptake in fibroblasts, which reflects the deficiency in creatine transport. The ability to measure elevated creatine in urine makes it possible to diagnose SLC6A8 deficiency in male patients with mental retardation of unknown etiology.
