Molecular Cytogenetics

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Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

Dilek Aktas1*, Eda G Utine1, Kristin Mrasek2, Anja Weise2, Ferdinand von Eggeling2, Kalbiye Yalaz3, Nicole Posorski2, Nurten Akarsu1, Mehmet Alikasifoglu1, Thomas Liehr2 and Ergul Tuncbilek1

Author Affiliations

1 Department of Genetics, Hacettepe University School of Medicine, Ankara, Turkey

2 University Hospital, Institute of Human Genetics, Jena, Germany

3 Department of Pediatric Neurology, Hacettepe University School of Medicine, Ankara, Turkey

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Molecular Cytogenetics 2010, 3:10 doi:10.1186/1755-8166-3-10

Published: 28 May 2010

Abstract

Background

Genomic imbalances constitute a major cause of congenital and developmental abnormalities. GLUT1 deficiency syndrome is caused by various de novo mutations in the facilitated human glucose transporter 1 gene (1p34.2) and patients with this syndrome have been diagnosed with hypoglycorrhachia, mental and developmental delay, microcephaly and seizures. Furthermore, 1q terminal deletions have been submitted in the recent reports and the absence of corpus callosum has been related to the deletion between C1orf100 and C1orf121 in 1q44.

Results

This study reports on a sibling pair with developmental delay, mental retardation, microcephaly, hypotonia, epilepsy, facial dysmorphism, ataxia and impaired speech. Chromosome analysis revealed a derivative chromosome 1 in both patients. FISH and MCB analysis showed two interstitial deletions at 1p34.2 and 1q44. SNP array and array-CGH analysis also determined the sizes of deletions detailed. The deleted region on 1p34.2 encompasses 33 genes, among which is GLUT1 gene (SLC2A1). However, the deleted region on 1q44 includes 59 genes and distal-proximal breakpoints were located in the ZNF672 gene and SMYD3 gene, respectively.

Conclusion

Haploinsufficiency of GLUT1 leads to GLUT1 deficiency syndrome, consistent with the phenotype in patients of this study. Conversely, in the deleted region on 1q44, none of the genes are related to findings in these patients. Additionally, the results confirm previous reports on that corpus callosal development may depend on the critical gene(s) lying in 1q44 proximal to the SMYD3 gene.