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Firenze, Italy

Paganini I.,University of Florence | Chang V.Y.,University of California at Los Angeles | Capone G.L.,University of Florence | Vitte J.,University of California at Los Angeles | And 7 more authors.
European Journal of Human Genetics | Year: 2015

Schwannomatosis is characterized by the development of multiple non-vestibular, non-intradermal schwannomas. Constitutional inactivating variants in two genes, SMARCB1 and, very recently, LZTR1, have been reported. We performed exome sequencing of 13 schwannomatosis patients from 11 families without SMARCB1 deleterious variants. We identified four individuals with heterozygous loss-of-function variants in LZTR1. Sequencing of the germline of 60 additional patients identified 18 additional heterozygous variants in LZTR1. We identified LZTR1 variants in 43% and 30% of familial (three of the seven families) and sporadic patients, respectively. In addition, we tested LZTR1 protein immunostaining in 22 tumors from nine unrelated patients with and without LZTR1 deleterious variants. Tumors from individuals with LZTR1 variants lost the protein expression in at least a subset of tumor cells, consistent with a tumor suppressor mechanism. In conclusion, our study demonstrates that molecular analysis of LZTR1 may contribute to the molecular characterization of schwannomatosis patients, in addition to NF2 mutational analysis and the detection of chromosome 22 losses in tumor tissue. It will be especially useful in differentiating schwannomatosis from mosaic Neurofibromatosis type 2 (NF2). However, the role of LZTR1 in the pathogenesis of schwannomatosis needs further elucidation. © 2015 Macmillan Publishers Limited All rights reserved. Source


Carboni I.,Diagnostic Genetics Unit | Rapi S.,Central Laboratory | Ricci U.,Diagnostic Genetics Unit
Legal Medicine | Year: 2014

The unequivocal tissue identification in forensic casework samples is a key step for crime scene reconstruction. Just knowing the origin of a fluid can sometimes be enough to either prove or disprove a fact in court. Despite the importance of this test, very few data are available in literature concerning human saliva identification in old forensic caseworks. In this work the stability of human α-amylase activity in aged samples is described by using three different methods integrated with DNA profiling techniques. This analytical protocol was successfully applied on 26-years old samples coming from anonymous threat letters sent to prosecutors who were working on "the Monster of Florence", a case of serial murders happened around Florence (Italy) between 1968 and 1985. © 2014 Elsevier Ireland Ltd. Source


Ricci U.,Diagnostic Genetics Unit | Carboni I.,Diagnostic Genetics Unit | Torricelli F.,Diagnostic Genetics Unit
Journal of Forensic Sciences | Year: 2014

In a case of robbery in which the criminals passed through the garden adorned with calamondin trees (Citrus madurensis), the investigators found in the grass six calamondin fruits, some undamaged, while others apparently bitten. The fruits were collected and sent to the laboratory for DNA analysis to verify the presence of saliva and robbers' DNA profile. A specific immunochromatographic strip test for saliva confirmed the presence of human salivary α-amylase, but similar positive results were also observed for intact calamondin and other citrus fruits. Further analysis with a specific automated amylase test confirmed the absence of amylase activity. DNA quantification and typing using a specific forensic kit revealed no human DNA presence in any fruits. This case report demonstrates for the first time the occurrence of false positives when human saliva is sought on citrus fruits. © 2014 American Academy of Forensic Sciences. Source


Carboni I.,Diagnostic Genetics Unit | Iozzi S.,Diagnostic Genetics Unit | Nutini A.L.,Diagnostic Genetics Unit | Macri P.G.,Legal Medicine Institute | And 2 more authors.
Forensic Science International: Genetics Supplement Series | Year: 2011

We report a judicial paternity testing with two exclusions at D2S1338 and vWA loci. Since these results suggested that the true father should be a close male relative of the tested man, mother was included into analysis. Subjects were also typed for 24 validated STRs, 11 STRs for linkage analysis, 8 X-STRs and 30 DIPs, for a total of 87 markers. No further exclusions were found. Paternity index, taking into account mutation rates for D2S1338 and vWA, was 1.45×1013 (W=0.99999999999993). The final odds that the true father should be the untyped brother of the alleged father, that refused DNA profiling, was 1:192. © 2011 Elsevier Ireland Ltd. Source


Carboni I.,Diagnostic Genetics Unit | Iozzi S.,Diagnostic Genetics Unit | Nutini A.L.,Diagnostic Genetics Unit | Torricelli F.,Diagnostic Genetics Unit | Ricci U.,Diagnostic Genetics Unit
Electrophoresis | Year: 2014

In a standard paternity testing, mother, child, and alleged father are analyzed with STR markers using commercially available kits. Since Italian civil legislation does not have thresholds to confirm a paternity, paternity is practically proven when likelihood ratio increases prior probability of paternity to posterior, accepted by court as sufficient. However, in some cases the number of markers included in a commercial kit may be insufficient to conclusively prove or disprove a relationship between individuals, especially when complex family scenarios are suspected or indirect analyses are required. Additional genetic information can increase the values of the likelihood ratio regarding the detection of true parental relationships in a pedigree, while reducing the chances of false attributions (e.g. false paternities). In these cases the introduction of a 26Plex amplification system allows to examine 23-26 additional markers depending on the commercial kit used, thus increasing the statistical power of the kinship analysis. The PCR conditions were optimized for a multiplex amplification system and a new generation CE instrument. In order to demonstrate the utility of additional STRs markers, four complex kinship cases are presented. © 2014 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim. Source

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