期刊
GENE
卷 507, 期 1, 页码 68-73出版社
ELSEVIER
DOI: 10.1016/j.gene.2012.06.052
关键词
Peters plus syndrome; B3GALTL gene; Acceptor splice site; Epigenetic process; CpG Island; mRNA fold
资金
- Ministry of Higher Education, Scientific Research and Technology in Tunisia [gts0005]
Peters plus syndrome is an autosomal recessive rare disorder comprising ocular anterior segment dysgenesis, short stature, hand abnormalities, distinctive facial features, and often other major/minor additional defects. Peters plus syndrome is related to mutations in the B3GALTL gene with only seven recently reported mutations, leading to the inactivation of the B1, 3-glucosyltransferase. In this study, we screened the B3GALTL gene in two unrelated patients with typical Peters plus syndrome. A novel homozygous c.597-2A>G mutation was identified in both patients. Bioinformatic analyses showed that this mutation modulates the pre mRNA secondary structure of the gene, and decreases the score value related to the formation of splicing loops. Moreover, the c.597-2A>G mutation is located in a CpG Island of the B3GALTL gene, suggesting a potential epigenetic role of this position including gene's methylation and regulation. These data confirm an important role of the B3GALTL gene test that provides diagnosis confirmation and improves genetic counseling for the families. (C) 2012 Elsevier B.V. All rights reserved.
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