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3. Mutational Spectrum of the C1 Inhibitor Gene in a Cohort of Italian Patients with Hereditary Angioedema: Description of Nine Novel Mutations

Author

Bafunno V., Bova M., Loffredo S., Divella C., Petraroli A., Montinaro V., Margaglione M., Triggiani M., LOFFREDO, STEFANIA, MARONE, GIANNI, Bafunno, V., Bova, M., Loffredo, S., Divella, C., Petraroli, A., Marone, Gianni, Montinaro, V., Margaglione, M., Triggiani, M., and Loffredo, Stefania

Subjects
Adult, Male, Adolescent, Complement C1 Inactivator Proteins, medicine.disease_cause, C1-inhibitor, Frameshift mutation, Cohort Studies, Young Adult, Genetics, medicine, Humans, Coding region, Missense mutation, Child, Gene, Genetic Association Studies, Genetics (clinical), Aged, Sequence Deletion, Mutation, biology, Angioedemas, Hereditary, Autosomal dominant trait, Middle Aged, medicine.disease, Italy, Hereditary angioedema, biology.protein, Female, Complement C1 Inhibitor Protein
Abstract

Summary Hereditary angioedema (HAE) is an autosomal dominant disease due to mutations in the C1 inhibitor gene (C1NH) that affects protein synthesis (HAE type I) or function (HAE type II). In 45 subjects affected by HAE diagnosed through clinical features and C1 inhibitor deficiency from the south of Italy (38 with type I and 7 with type II HAE), the whole C1NH coding region was screened for mutations by direct DNA sequencing. A severity score based on clinical manifestation, age at disease onset, and need for long-term prophylaxis was used to investigate possible genotype-phenotype correlations. A series of 22 different mutations was identified: nine missense (40.9%), five nonsense (22.7%), six frameshift (27.3), one small deletion (4.5%), and one splicing defect (4.5%). Nine C1NH mutations have not been previously described. No correlation was found between C1 inhibitor function level and severity score or age at first attack. Moreover, there was no correlation between different types of mutations and clinical phenotype. The number of different mutations identified highlights the heterogeneity of C1 inhibitor deficiency and supports the hypothesis that HAE clinical phenotype is not strictly related to the type of mutation but rather depends on unknown factors.

Published
2014

4. Obstetric complications and pregnancy-related venous thromboembolism: The effect of low-molecular-weight heparin on their prevention in carriers of factor V Leiden or prothrombin G20210A mutation

Author

Tormene, D, Grandone, E, De Stefano, Valerio, Tosetto, A, Palareti, G, Margaglione, M, Castaman, G, Rossi, Elena, Ciminello, Angela Maria, Valdrè, L, Legnani, C, Tiscia, G, Bafunno, V, Carraro, S, Rodeghiero, F, Simioni, P., De Stefano, Valerio (ORCID:0000-0002-5178-5827), Rossi, Elena (ORCID:0000-0002-7572-9379), Tormene, D, Grandone, E, De Stefano, Valerio, Tosetto, A, Palareti, G, Margaglione, M, Castaman, G, Rossi, Elena, Ciminello, Angela Maria, Valdrè, L, Legnani, C, Tiscia, G, Bafunno, V, Carraro, S, Rodeghiero, F, Simioni, P., De Stefano, Valerio (ORCID:0000-0002-5178-5827), and Rossi, Elena (ORCID:0000-0002-7572-9379)

Abstract

Whether the administration of low-molecular-weight heparin (LMWH) during pregnancy is effective in preventing obstetric complications and pregnancy-related venous thromboembolism (VTE) in women who are carriers of factor V Leiden (FVL) and/or prothrombin variant G20210A (PTm) is controversial. This observational study investigated the possible efficacy of pharmacological treatment with LMWH ± aspirin (ASA) in pregnancy outcomes in 1,011 pregnancies of 416 women with thrombophilia (FVL and/or PTm). Most patients were chosen on the basis of previous obstetrical complications (36%), or because of familial or personal history of venous/arterial thromboembolism (28% and 18%, respectively); 74 patients (18%) were incidentally identified. The outcome was evaluated according to the type of treatment and of the period of pregnancy when the treatment was started. After adjustment for observation before and after diagnosis of thrombophilia, previous miscarriages and VTE, parity, age and centre, we observed that LMWH had a protective effect on miscarriages (odds ratio [OR] 0.52, 95% confidence interval [CI] 0.29-0.94) and VTE (OR 0.05, 95% CI 0.01-0.21). ASA appeared to have no effect on the prevention of obstetric complications and VTE. A nested analysis performed in 116 women with two or more obstetric complications confirmed that the highest number of live births was recorded in the group under LMWH prophylaxis (OR 0.19, 95% CI 0.05-0.75). These results suggest that LMWH prophylaxis reduces the risk of obstetric complications in carriers of FVL and/or PTm, particularly in those with previous obstetric events. Furthermore, LMWH prophylaxis reduces the risk of pregnancy-related VTE.

Published
2012

5. Fatal pulmonary thromboembolism. A retrospective autopsy study: searching for genetic thrombophilias (Factor V Leiden (G1691A) and FII (G20210A) gene variants) and dating the thrombus.

Author

Fineschi V, Bafunno V, Bello S, De Stefano F, Margaglione M, Neri M, Riezzo I, Turillazzi E, Bonsignore A, Vecchione G, Ventura F, and Grandone E

Subjects
Adult, Aged, Aged, 80 and over, Female, Forensic Pathology, Heterozygote, Humans, Male, Middle Aged, Polymorphism, Genetic, Retrospective Studies, Risk Factors, Venous Thrombosis genetics, Young Adult, Factor V genetics, Prothrombin genetics, Pulmonary Embolism pathology, Venous Thrombosis pathology
Abstract

The accuracy of antemortem diagnosis of pulmonary embolism is within the range of just 10-30%, so representing one of the most frequent missed diagnosis in sudden, unexpected death. We describe 43 fatal cases of pulmonary embolism as confirmed by post-mortem examination. The aim of our study was to verify the systematic search for the most common genetic thrombophilias (Factor V Leiden (G1691A) and FII (G20210A) gene variants) and dating the thrombus. As a whole, 41 patients (95.3%) had at least one risk factor. Pre-existing symptoms are described just before fatal embolism in 18 (41.9%) out 43 patients. In 18 out of 43 (41.9%) it was not possible to find the thrombotic site. In 24 out of the remaining 25 cases the involvement of the deep veins of one leg was shown; in 1 case the thrombus was localised in the inferior caval vein. 10 (41.7%) were iliac vein thromboses, 7 (29.1%) femoral, 2 (8.3%) popliteal, 3 (12.6%) posterior-tibial, 1 (4.1%) anterior-tibial and 1 (4.1%) peroneal vein thromboses. In our cohort of patients, 4 (10%) out of 40 cases carried the 20210A prothrombin gene variant in heterozygosis. One (2.5%) out of 40 carried the Factor V Leiden (G1691A) gene variant in heterozygosis. Patients carrying these gene variants in homozygosis or carrying both were not present in our case-series. We strongly underline the relevance of a complete methodological approach, integrating clinical data by means of autopsy findings and histological study. On the contrary, investigating common inherited thrombophilia is not warranted., (Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.)

Published
2012
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6. McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family.

Author

Chetta M, Bukvic N, Bafunno V, Sarno M, Magaldi R, Grilli G, Bertozzi V, Perfetto F, and Margaglione M

Abstract

McKusick-Kaufman syndrome (MKS, OMIM #236700) is a rare syndrome inherited in an autosomal recessive pattern with a phenotypic triad comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP), and congenital cardiac disease (CHD). The syndrome is caused by mutations in the MKKS gene mapped onto chromosome 20p12 between D20S162 and D20S894 markers. Mutations in the same gene causes Bardet-Biedl-6 syndrome (BBS-6, OMIM #209900) inherited in an autosomal recessive pattern. BBS-6 comprises retinitis pigmentosa, polydactyly, obesity, mental retardation, renal and genital anomalies. HMC, CHD, and PAP defects can also occur in BBS-6, and there is a significant clinical overlap between MKS and BBS-6 in childhood. We describe a new borderline case of MKS and BBS syndrome and suggest insights for understanding correlation between MKKS gene mutations and clinical phenotype. Here, we report the results of molecular analysis of MKKS in a female proband born in an Italian nonconsanguineous healthy family that presents HMC and PAP. The mutational screening revealed the presence of two different heterozygous missense variants (p.242A>S in exon 3, p.339 I>V in exon 4) in the MKKS gene, and a nucleotide variation in 5'UTR region in exon 2 (-417 A>C).

Published
2011
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7. Riboflavin uptake and FAD synthesis in Saccharomyces cerevisiae mitochondria: involvement of the Flx1p carrier in FAD export.

Author

Bafunno V, Giancaspero TA, Brizio C, Bufano D, Passarella S, Boles E, and Barile M

Subjects
Base Sequence, Biological Transport, Cytosol metabolism, DNA Primers, Flavin-Adenine Dinucleotide biosynthesis, Flavins metabolism, Kinetics, Membrane Transport Proteins genetics, Molecular Sequence Data, Mutagenesis, Site-Directed, Saccharomyces cerevisiae genetics, Saccharomyces cerevisiae Proteins genetics, Flavin-Adenine Dinucleotide metabolism, Membrane Transport Proteins metabolism, Mitochondria metabolism, Riboflavin metabolism, Saccharomyces cerevisiae metabolism, Saccharomyces cerevisiae Proteins metabolism
Abstract

We have studied the functional steps by which Saccharomyces cerevisiae mitochondria can synthesize FAD from cytosolic riboflavin (Rf). Riboflavin uptake into mitochondria took place via a mechanism that is consistent with the existence of (at least two) carrier systems. FAD was synthesized inside mitochondria by a mitochondrial FAD synthetase (EC 2.7.7.2), and it was exported into the cytosol via an export system that was inhibited by lumiflavin, and which was different from the riboflavin uptake system. To understand the role of the putative mitochondrial FAD carrier, Flx1p, in this pathway, an flx1Delta mutant strain was constructed. Coupled mitochondria isolated from flx1Delta mutant cells were compared with wild-type mitochondria with respect to the capability to take up Rf, to synthesize FAD from it, and to export FAD into the extramitochondrial phase. Mitochondria isolated from flx1Delta mutant cells specifically lost the ability to export FAD, but did not lose the ability to take up Rf, FAD, or FMN and to synthesize FAD from Rf. Hence, Flx1p is proposed to be the mitochondrial FAD export carrier. Moreover, deletion of the FLX1 gene resulted in a specific reduction of the activities of mitochondrial lipoamide dehydrogenase and succinate dehydrogenase, which are FAD-binding enzymes. For the flavoprotein subunit of succinate dehydrogenase we could demonstrate that this was not due to a changed level of mitochondrial FAD or to a change in the degree of flavinylation of the protein. Instead, the amount of the flavoprotein subunit of succinate dehydrogenase was strongly reduced, indicating an additional regulatory role for Flx1p in protein synthesis or degradation.

Published
2004
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