Abstract
Deletions in chromosome 17q12 encompassing the HNF1β gene cause cystic renal disease and maturity onset diabetes of the young, and have been recently described as the first recurrent genomic deletion leading to diabetes. Earlier reports of patients with this microdeletion syndrome have suggested an absence of cognitive impairment, differentiating it from most other contiguous gene deletion syndromes. The reciprocal duplication of 17q12 is rare and has been hypothesized to be associated with an increased risk of epilepsy and mental retardation. We conducted a detailed clinical and molecular characterization of four patients with a deletion and five patients with a reciprocal duplication of this region. Our patients with deletion of 17q12 presented with cognitive impairment, cystic renal disease, seizures, and structural abnormalities of the brain. Patients with reciprocal duplications manifest with cognitive impairment and behavioral abnormalities, but not with seizures. Our findings expand the phenotypic spectrum associated with rearrangements of 17q12 and show that cognitive impairment is a part of the phenotype of individuals with deletions of 17q12.
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Acknowledgements
We thank the participating families for their kind cooperation. This work was supported in part by fellowship grants from the Osteogenesis Imperfecta Foundation (SNSC), DK081735-01A1, NIH/NIGMS T32 contract grant number GM07526 and by the National Urea Cycle Foundation Research Fellowship (AE), and grant R13-0005-04/2008 from the Polish Ministry of Science and Higher Education (PS).
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Nagamani, S., Erez, A., Shen, J. et al. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet 18, 278–284 (2010). https://doi.org/10.1038/ejhg.2009.174
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DOI: https://doi.org/10.1038/ejhg.2009.174
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