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3 results on '"Jovine, Luca [0000-0002-2679-6946]"'

1. Specifications of the ACMG/AMP variant curation guidelines for hereditary hemorrhagic telangiectasia genes - ENG and ACVRL1

Author

NIHR Biomedical Research Centre (UK), Knut and Alice Wallenberg Foundation, Swedish Research Council, Consejo Superior de Investigaciones Científicas (España), Ministero dell'Università e della Ricerca, Banca d’Italia, National Human Genome Research Institute (US), National Cancer Institute (US), DeMille, D. [0000-0001-7924-3379], McDonald, Jamie [0000-0001-9939-7922], Bernabéu, Carmelo [0000-0002-1563-6162], Racher, H. [0000-0002-2827-7824], Olivieri, Carla [0000-0001-5812-3175], Cantarini, Claudia [0000-0002-8960-2678], Sbalchiero, Anna [0000-0002-0010-0840], Thompson, Bryony A. [0000-0001-8655-1839], Jovine, Luca [0000-0002-2679-6946], Shovlin, Claire L. [0000-0001-9007-5775], Dupuis-Girod, Sophie [0000-0002-8834-5526], Lesca, Gaetan [0000-0001-7691-9492], Tusseau, Maud [0000-0003-0494-5530], Ganguly, A. [0000-0003-4527-3216], Kasthuri, R. S. [0000-0001-6672-3082], Jessen, J. [0009-0002-1886-3560], Massink, Maarten P. G. [0000-0002-7845-6038], Ichikawa, S. [0000-0001-6477-0520], Bayrak-Toydemir, Pinar [0000-0001-9381-2478], DeMille, D., McDonald, Jamie, Bernabéu, Carmelo, Racher, H., Olivieri, Carla, Cantarini, Claudia, Sbalchiero, Anna, Thompson, Bryony A., Jovine, Luca, Shovlin, Claire L., Dupuis-Girod, Sophie, Lesca, Gaetan, Tusseau, Maud, Ganguly, A., Kasthuri, R. S., Jessen, J., Massink, Maarten P. G., Ichikawa, S., Bayrak-Toydemir, Pinar, NIHR Biomedical Research Centre (UK), Knut and Alice Wallenberg Foundation, Swedish Research Council, Consejo Superior de Investigaciones Científicas (España), Ministero dell'Università e della Ricerca, Banca d’Italia, National Human Genome Research Institute (US), National Cancer Institute (US), DeMille, D. [0000-0001-7924-3379], McDonald, Jamie [0000-0001-9939-7922], Bernabéu, Carmelo [0000-0002-1563-6162], Racher, H. [0000-0002-2827-7824], Olivieri, Carla [0000-0001-5812-3175], Cantarini, Claudia [0000-0002-8960-2678], Sbalchiero, Anna [0000-0002-0010-0840], Thompson, Bryony A. [0000-0001-8655-1839], Jovine, Luca [0000-0002-2679-6946], Shovlin, Claire L. [0000-0001-9007-5775], Dupuis-Girod, Sophie [0000-0002-8834-5526], Lesca, Gaetan [0000-0001-7691-9492], Tusseau, Maud [0000-0003-0494-5530], Ganguly, A. [0000-0003-4527-3216], Kasthuri, R. S. [0000-0001-6672-3082], Jessen, J. [0009-0002-1886-3560], Massink, Maarten P. G. [0000-0002-7845-6038], Ichikawa, S. [0000-0001-6477-0520], Bayrak-Toydemir, Pinar [0000-0001-9381-2478], DeMille, D., McDonald, Jamie, Bernabéu, Carmelo, Racher, H., Olivieri, Carla, Cantarini, Claudia, Sbalchiero, Anna, Thompson, Bryony A., Jovine, Luca, Shovlin, Claire L., Dupuis-Girod, Sophie, Lesca, Gaetan, Tusseau, Maud, Ganguly, A., Kasthuri, R. S., Jessen, J., Massink, Maarten P. G., Ichikawa, S., and Bayrak-Toydemir, Pinar

Abstract

The 2015 ACMG/AMP standards and guidelines for interpretation of sequence variants are widely used by laboratories, including for variant curation of the hereditary hemorrhagic telangiectasia (HHT) genes. However, the need for gene- and disease-specific modifications and specifications of these general guidelines to optimize and standardize variant classification was recognized at the time of publication. With this goal, the ClinGen HHT variant curation expert panel was formed. Here, we describe our recommended HHT-specific variant classification criteria and the outcomes from pilot testing of 30 variants of the ENG and ACVRL1 genes. Eight of the original ACMG/AMP rules were determined to not be applicable for ENG- or ACVRL1-related HHT or were previously recommended by ClinGen for removal, two rules were unmodified, and the remaining 18 rules were modified according to HHT specifications or previous ClinGen general recommendations. This study demonstrates the importance of HHT-specific criteria in the optimization and standardization of HHT variant classification and conflicting classification resolution. © 2024 Desiree DeMille et al.

Published
2024

2. ClinGen HHT variant curation expert panel’s modified variant interpretation and classification guidelines

Author

McDonald, Jamie [0000-0001-9939-7922], Bernabéu, Carmelo [0000-0002-1563-6162], Dupuis-Girod, Sophie [0000-0002-8834-5526], Jovine, Luca [0000-0002-2679-6946], Olivieri, Carla [0000-0001-5812-3175], Ploos van Amstel, Hans K. [0000-0001-9622-3994], Shovlin, Claire L. [0000-0001-9007-5775], Bayrak-Toydemir, Pinar [0000-0001-9381-2478], DeMille, D., McDonald, Jamie, Bernabéu, Carmelo, Dupuis-Girod, Sophie, Ganguly, A., Giraud, S., Ichikawa, S., Jessen, J., Jovine, Luca, Kasthuri, R. S., Olivieri, Carla, Ploos van Amstel, Hans K., Racher, H., Shovlin, Claire L., Bayrak-Toydemir, Pinar, McDonald, Jamie [0000-0001-9939-7922], Bernabéu, Carmelo [0000-0002-1563-6162], Dupuis-Girod, Sophie [0000-0002-8834-5526], Jovine, Luca [0000-0002-2679-6946], Olivieri, Carla [0000-0001-5812-3175], Ploos van Amstel, Hans K. [0000-0001-9622-3994], Shovlin, Claire L. [0000-0001-9007-5775], Bayrak-Toydemir, Pinar [0000-0001-9381-2478], DeMille, D., McDonald, Jamie, Bernabéu, Carmelo, Dupuis-Girod, Sophie, Ganguly, A., Giraud, S., Ichikawa, S., Jessen, J., Jovine, Luca, Kasthuri, R. S., Olivieri, Carla, Ploos van Amstel, Hans K., Racher, H., Shovlin, Claire L., and Bayrak-Toydemir, Pinar

Published
2023

3. Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia

Author

Fabio Pagella, Carmelo Bernabeu, Lidia Ruiz-Llorente, Sara Plumitallo, Elisa Chiapparino, Luca Jovine, Pinar Bayrak-Toydemir, Carla Olivieri, Cesare Danesino, Guido Manfredi, Ministerio de Economía, Industria y Competitividad (España), Consejo Superior de Investigaciones Científicas (España), Centro de Investigación Biomédica en Red Enfermedades Raras (España), Instituto de Salud Carlos III, Ruiz-Llorente, Lidia, Plumitallo, Sara, Danesino, Cesare, Bayrak-Toydemir, Pinar, Bernabéu, Carmelo, Jovine, Luca, Olivieri, Carla, Ruiz-Llorente, Lidia [0000-0003-1430-9618], Plumitallo, Sara [0000-0003-2998-777X], Danesino, Cesare [0000-0002-8400-5671], Bayrak-Toydemir, Pinar [0000-0001-9381-2478], Bernabéu, Carmelo [0000-0002-1563-6162], Jovine, Luca [0000-0002-2679-6946], and Olivieri, Carla [0000-0001-5812-3175]

Subjects
Adult, Male, Protein Folding, Haploinsufficiency, Biology, medicine.disease_cause, HHT, Young Adult, Exon, Protein Domains, hemic and lymphatic diseases, otorhinolaryngologic diseases, Genetics, medicine, Humans, Cysteine, Child, Zona pellucida, ZP-domain, Mutation, Expression vector, Endoglin, ACVRL1, Exons, General Medicine, Transfection, Middle Aged, Molecular biology, Pedigree, ENG, medicine.anatomical_structure, Italy, Membrane protein, Female, Telangiectasia, Hereditary Hemorrhagic, Signal Transduction
Abstract

7 p.-4 fig., Hereditary hemorrhagic telangiectasia (HHT) is a vascular rare disease characterized by nose and gastrointestinal bleeding, skin and mucosa telangiectasias, and arteriovenous malformations in internal organs. HHT shows an autosomal dominant inheritance and a worldwide prevalence of approximately 1:5000 individuals. In >80% of patients, HHT is caused by mutations in either ENG (HHT1) or ACVRL1 (HHT2) genes, which code for the membrane proteins Endoglin and Activin A Receptor Type II-Like Kinase 1 (ALK1), respectively, both belonging to the TGF-β/BMP signaling pathway. In this work, we describe a novel mutation in exon 9 of ENG (c.1145 G > A) found in five affected members of a family, all of them with characteristic symptoms of HHT. This mutation involves Cys382 residue of the Endoglin protein (p.Cys382 > Tyr) in the zona pellucida (ZP) module of its extracellular region. This is a critical residue involved in a conserved intrachain disulphide bond and in the correct folding of the protein. In fact, transfection studies in human cells using Endoglin expression vectors demonstrated that the p.Cys382 > Tyr mutation results in a marked reduction in the levels of the Endoglin protein. These results demonstrate the pathogenic role for this variant in HHT1 and confirm the key function of Cys382 in Endoglin expression., This work was supported by the Ministerio de Economía, Industria y Competitividad (Grant SAF2013-43421-R to CB); the Consejo Superior de Investigaciones Científicas (Grant 201420E039 and 201920E022 to CB); and the Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER; Grant ISCIII-CB06/07/0038 to CB and contract to LR-L) of Spain. CIBERER is an initiative of the Instituto de Salud Carlos III (ISCIII) of Spain supported by FEDER funds.

Published
2019
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