Academic Journal
Identification of Rare LRP5 Variants in a Cohort of Males with Impaired Bone Mass
| العنوان: | Identification of Rare LRP5 Variants in a Cohort of Males with Impaired Bone Mass |
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| المؤلفون: | Rocca, Maria Santa, Minervini, Giovanni, Di Nisio, Andrea, Merico, Maurizio, Bueno Marinas, Maria, De Toni, Luca, Pilichou, Kalliopi, Garolla, Andrea, Foresta, Carlo, Ferlin, Alberto |
| المساهمون: | Rocca, Maria Santa, Minervini, Giovanni, Di Nisio, Andrea, Merico, Maurizio, Bueno Marinas, Maria, De Toni, Luca, Pilichou, Kalliopi, Garolla, Andrea, Foresta, Carlo, Ferlin, Alberto |
| سنة النشر: | 2021 |
| المجموعة: | Padua Research Archive (IRIS - Università degli Studi di Padova) |
| مصطلحات موضوعية: | BMD, LRP5, NGS panel, computational study, impaired bone microstructure, Cohort Studie, Genetic Testing, Human, Italy, Low Density Lipoprotein Receptor-Related Protein-5, Male, Middle Aged, Osteoporosi, Phenotype, Bone Density, Mutation |
| الوصف: | Osteoporosis is the most common bone disease characterized by reduced bone mass and increased bone fragility. Genetic contribution is one of the main causes of primary osteoporosis; therefore, both genders are affected by this skeletal disorder. Nonetheless, osteoporosis in men has received little attention, thus being underestimated and undertreated. The aim of this study was to identify novel genetic variants in a cohort of 128 males with idiopathic low bone mass using a next-generation sequencing (NGS) panel including genes whose mutations could result in reduced bone mineral density (BMD). Genetic analysis detected in eleven patients ten rare heterozygous variants within the LRP5 gene, which were categorized as VUS (variant of uncertain significance), likely pathogenic and benign variants according to American College of Medical Genetics and Genomics (ACMG) guidelines. Protein structural and Bayesian analysis performed on identified LRP5 variants pointed out p.R1036Q and p.R1135C as pathogenic, therefore suggesting the likely association of these two variants with the low bone mass phenotype. In conclusion, this study expands our understanding on the importance of a functional LRP5 protein in bone formation and highlights the necessity to sequence this gene in subjects with idiopathic low BMD. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | ELETTRONICO |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/34639175; info:eu-repo/semantics/altIdentifier/wos/WOS:000707512800001; volume:22; issue:19; firstpage:10834; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11577/3451586; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116416860; https://www.mdpi.com/1422-0067/22/19/10834 |
| DOI: | 10.3390/ijms221910834 |
| الاتاحة: | http://hdl.handle.net/11577/3451586 https://doi.org/10.3390/ijms221910834 https://www.mdpi.com/1422-0067/22/19/10834 |
| Rights: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.CFAFFE6A |
| قاعدة البيانات: | BASE |
| DOI: | 10.3390/ijms221910834 |
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