A 10 bp deletion polymorphism and 2 new variations in the GLUT1 gene associated with meningomyelocele.

We sought to examine the diversity and extent of sequence variations in GLUT1 in patients with myelomeningocele (MM) and to identify variations conferring risk of MM. Sequences of the 10 exons and exon-intron boundaries of GLUT1 for 96 patients with MM (48 Caucasians and 48 Mexican Americans) were determined by direct sequencing of DNA. Two new variants were identified. One is located within intron 7 (c.972+17t>a), 17 bases from exon 7. The other is within exon 8 (c.1016T>C) and results in an amino acid change at isoleucine 339 (p.Ile339Thr). A 10 base pair (bp) deletion within intron 9 was genotyped for 457 patients with MM and showed it to be more common in Caucasian MM patients than in Caucasian controls (P = .02). The physiologic role of the 2 newly identified variants in the GLUT1 gene and the 10 bp deletion associated with risk of MM in Caucasian patients is under investigation.