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  Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes and epilepsy.

Mefford, H. C., Clauin, S., Sharp, A. J., Moller, R. S., Ullmann, R., Kapur, R., et al. (2007). Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes and epilepsy. American Journal of Human Genetics: AJHG, 81(5), 1057-1069. doi:10.1086/522591.

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Genre: Journal Article
Alternative Title : Am J Hum Genet.

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PIIS0002929707638804.pdf (Any fulltext), 2MB
 
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Mefford, Heather C., Author
Clauin, Séverine, Author
Sharp, Andrew J., Author
Moller, Rikke S., Author
Ullmann, Reinhard1, Author           
Kapur, Raj, Author
Pinkel, Dan, Author
Cooper, Gregory M., Author
Ventura, Mario, Author
Ropers, Hans-Hilger2, Author           
Tommerup, Niels, Author
Eichler, Evan E., Author
Bellanne-Chantelot, Christine, Author
Affiliations:
1Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

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 Abstract: Most studies of genomic disorders have focused on patients with cognitive disability and/or peripheral nervous system defects. In an effort to broaden the phenotypic spectrum of this disease model, we assessed 155 autopsy samples from fetuses with well-defined developmental pathologies in regions predisposed to recurrent rearrangement, by array-based comparative genomic hybridization. We found that 6% of fetal material showed evidence of microdeletion or microduplication, including three independent events that likely resulted from unequal crossing-over between segmental duplications. One of the microdeletions, identified in a fetus with multicystic dysplastic kidneys, encompasses the TCF2 gene on 17q12, previously shown to be mutated in maturity-onset diabetes, as well as in a subset of pediatric renal abnormalities. Fine-scale mapping of the breakpoints in different patient cohorts revealed a recurrent 1.5-Mb de novo deletion in individuals with phenotypes that ranged from congenital renal abnormalities to maturity-onset diabetes of the young type 5. We also identified the reciprocal duplication, which appears to be enriched in samples from patients with epilepsy. We describe the first example of a recurrent genomic disorder associated with diabetes.

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Language(s): eng - English
 Dates: 2007-11-01
 Publication Status: Issued
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Title: American Journal of Human Genetics : AJHG
  Alternative Title : Am J Hum Genet.
Source Genre: Journal
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Pages: - Volume / Issue: 81 (5) Sequence Number: - Start / End Page: 1057 - 1069 Identifier: ISSN: 0002-9297