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Catalli C.,University of Rome Tor Vergata | Morgante A.,University of Rome Tor Vergata | Iraci R.,University of Rome Tor Vergata | Rinaldi F.,University of Rome Tor Vergata | And 3 more authors.
Journal of Molecular Diagnostics | Year: 2010

Myotonic dystrophy type 2 (DM2, OMIM #602688) is a multisystemic hereditary degenerative disease caused by a tetranucleotide CCTG expansion in the ZNF9 gene. Routine testing strategies for DM2 require the use of Southern blot or long-range PCR, but the presence of very large expansions and wide somatic mosaicism greatly reduce the sensitivity of these reference techniques. We therefore developed and validated a tetraplet-primed PCR (TP-PCR) method to detect the DM2 mutation by testing 87 DM2-positive and 76 DM2-negative previously characterized patients. The specificity of this technique was evaluated including DNA samples from 39 DM1-positive patients. We then attempted a prospective analysis of 50 patients with unknown genotype who referred to our center for diagnostic or presymptomatic tests. Results show that TP-PCR is a fast , reliable, and flexible technique, whose specificity and sensitivity is almost 100%, with no false positive or negative results either in retrospective and prospective applications. We therefore conclude that using this technique, in combination with the short-range PCR, is sufficient to correctly establish the presence or the absence of ZNF9 expanded alleles in the molecular diagnosis of DM2. Copyright © American Society for Investigative Pathology and the Association for Molecular Pathology. Source

Alesi V.,Research Center and Medical Genetics Center | Barrano G.,Research Center and Medical Genetics Center | Morara S.,Research Center and Medical Genetics Center | Darelli D.,Research Center and Medical Genetics Center | And 7 more authors.
American Journal of Medical Genetics, Part A | Year: 2011

Interstitial deletion of the short arm of chromosome 4, excluding cytoband p16, has been described as a distinct phenotype from the Wolf-Hirschhorn syndrome, characterized by a deletion encompassing cytoband p16. We report on the case of a 14-month-old boy with an apparently isolated craniosynostosis and harboring a de novo microdeletion in band 4p15. The imbalance, about 4Mb in size is, to date, the smallest deletion ever described in this region, encompassing 12 genes. A comparison with other previously described cases of 4p15 deletion is made, and the possible roles of some genes involved in the deletion are discussed. © 2011 Wiley-Liss, Inc. Source

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