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Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review
Osteogenesis imperfecta (OI) is a large group of genetically heterogeneous diseases resulting from decreased bone density and an abnormal microarchitecture, which are clinically manifested by abnormal bone fractures. A distinctive clinical feature of this group of diseases is the presence of spontan...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9598403/ https://www.ncbi.nlm.nih.gov/pubmed/36289625 http://dx.doi.org/10.3390/biomedicines10102363 |
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author | Tyurin, Anton Merkuryeva, Elena Zaripova, Aliya Markova, Tatyana Nagornova, Tatyana Dantsev, Ilya Nadyrshina, Dina Zakharova, Ekaterina Khusainova, Rita |
author_facet | Tyurin, Anton Merkuryeva, Elena Zaripova, Aliya Markova, Tatyana Nagornova, Tatyana Dantsev, Ilya Nadyrshina, Dina Zakharova, Ekaterina Khusainova, Rita |
author_sort | Tyurin, Anton |
collection | PubMed |
description | Osteogenesis imperfecta (OI) is a large group of genetically heterogeneous diseases resulting from decreased bone density and an abnormal microarchitecture, which are clinically manifested by abnormal bone fractures. A distinctive clinical feature of this group of diseases is the presence of spontaneous fractures and skeletal deformities. However, the clinical manifestations of different types of OI are characterized by marked polymorphism with variable severity of skeletal and extra-skeletal features. Previous studies have shown that a mutation (c.-14C>T) in the IFITM5 gene is responsible for autosomal dominant OI type V. However, the mutation has a variable expression pattern and marked clinical heterogeneity. In this study, a clinical and genetic analysis of 12 cases with molecularly confirmed OI type V from 12 unrelated families was performed. Significant clinical heterogeneity of the disease with the same molecular defect was detected. In six subjects (50%), there were no classic signs of OI type V (formation of a hyperplastic bone callus, calcification of the interosseous membrane and dislocation of the radial head). In all cases, the mutation occurred de novo. |
format | Online Article Text |
id | pubmed-9598403 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-95984032022-10-27 Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review Tyurin, Anton Merkuryeva, Elena Zaripova, Aliya Markova, Tatyana Nagornova, Tatyana Dantsev, Ilya Nadyrshina, Dina Zakharova, Ekaterina Khusainova, Rita Biomedicines Article Osteogenesis imperfecta (OI) is a large group of genetically heterogeneous diseases resulting from decreased bone density and an abnormal microarchitecture, which are clinically manifested by abnormal bone fractures. A distinctive clinical feature of this group of diseases is the presence of spontaneous fractures and skeletal deformities. However, the clinical manifestations of different types of OI are characterized by marked polymorphism with variable severity of skeletal and extra-skeletal features. Previous studies have shown that a mutation (c.-14C>T) in the IFITM5 gene is responsible for autosomal dominant OI type V. However, the mutation has a variable expression pattern and marked clinical heterogeneity. In this study, a clinical and genetic analysis of 12 cases with molecularly confirmed OI type V from 12 unrelated families was performed. Significant clinical heterogeneity of the disease with the same molecular defect was detected. In six subjects (50%), there were no classic signs of OI type V (formation of a hyperplastic bone callus, calcification of the interosseous membrane and dislocation of the radial head). In all cases, the mutation occurred de novo. MDPI 2022-09-22 /pmc/articles/PMC9598403/ /pubmed/36289625 http://dx.doi.org/10.3390/biomedicines10102363 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Tyurin, Anton Merkuryeva, Elena Zaripova, Aliya Markova, Tatyana Nagornova, Tatyana Dantsev, Ilya Nadyrshina, Dina Zakharova, Ekaterina Khusainova, Rita Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review |
title | Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review |
title_full | Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review |
title_fullStr | Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review |
title_full_unstemmed | Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review |
title_short | Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review |
title_sort | does the c.-14c>t mutation in the ifitm5 gene provide identical phenotypes for osteogenesis imperfecta type v? data from russia and a literature review |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9598403/ https://www.ncbi.nlm.nih.gov/pubmed/36289625 http://dx.doi.org/10.3390/biomedicines10102363 |
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