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- W4256178384 abstract "Maternal diabetes and obesity are known risk factors for developmental embryopathy including myelomeningocele (MM). Previous studies have shown associations between known genetic variations in glucose transporter genes involved in glucose metabolism and MM. The objective of our study is to examine the diversity and extent of known sequence variations in the glucose transporter 3 (GLUT3) gene in patients with MM and to identify novel variations that may confer risk of MM. We performed DNA sequencing of the 10 exons of GLUT3, including the exon-intron boundaries, on 96 patients with MM (48 Caucasian, 48 Hispanic of Mexican descent). Sequencing was carried out with the Sanger method and results were analyzed with the DNA Sequencing Analysis Software v5.1 from ABI. The frequencies of known single nucleotide polymorphisms (SNPs) were identified, and sequences that differed from the reference sequence (February 2009 GRCh37/hg19 assembly) were considered novel variants. Six novel, and nine previously described, genetic variations were identified in our patient population. These findings are shown in table 1 with frequencies compared to reference populations (1000 Genome and NHLBI studies), as well as potential functional implications. The novel variations include a large, 83 base pair deletion involving the promoter region and part of Exon 1 found in 1/96 patients (0.5% allele frequency), and a two base pair deletion in the coding sequence of Exon 4 found in 1/96 patients (0.5% allele frequency). We identified previously undescribed deletions and single nucleotide polymorphisms involving the GLUT3 gene that may be associated with increased susceptibility to MM. Of particular interest, the two deletions involve both an important promoter site, and a coding region. Additionally, one of the known variations identified (rs17847972) has the rare allele frequency significantly higher than expected. The functional significance of these findings is under investigation.Tabled 1Table 1 depicts known and novel variations identified within the GLUT3 gene in our patient population, and includes potential functional implications and comparisons of rare allele frequencies to reference population frequencies. Open table in a new tab" @default.
- W4256178384 created "2022-05-12" @default.
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- W4256178384 date "2014-01-01" @default.
- W4256178384 modified "2023-10-01" @default.
- W4256178384 title "42: Genetic variations in the GLUT3 gene associated with myelomeningocele" @default.
- W4256178384 doi "https://doi.org/10.1016/j.ajog.2013.10.075" @default.
- W4256178384 hasPublicationYear "2014" @default.
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