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COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report

BACKGROUND: Osteogenesis imperfecta (OI) is a rare heterogeneous genetic disorder commonly autosomal dominant with variants in the COL1A1 and COL1A2 genes. It is characterized by bone fragility and deformity, recurrent fractures, blue sclera, dentinogenesis imperfecta, short stature, and progressive...

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Autores principales: Dirani, Michella, Cuenca, Victor D., Romero, Vanessa I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632975/
https://www.ncbi.nlm.nih.gov/pubmed/36338653
http://dx.doi.org/10.3389/fsurg.2022.986372
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author Dirani, Michella
Cuenca, Victor D.
Romero, Vanessa I.
author_facet Dirani, Michella
Cuenca, Victor D.
Romero, Vanessa I.
author_sort Dirani, Michella
collection PubMed
description BACKGROUND: Osteogenesis imperfecta (OI) is a rare heterogeneous genetic disorder commonly autosomal dominant with variants in the COL1A1 and COL1A2 genes. It is characterized by bone fragility and deformity, recurrent fractures, blue sclera, dentinogenesis imperfecta, short stature, and progressive deafness. CASE PRESENTATION: We present a novel splicing mutation in the COL1A1 gene (c.2398-1G > C) in a 6-year-old Ecuadorian girl with fractures after light pressure and blue sclera. We identified the pathogenic variant, performed a literature review of splice variants, and recognized their location in the COL1A1 functional domains. CONCLUSION: We describe the first clinical description of a patient with OI type 1 caused by a splice variant in intron 34 of COL1A1 gene and identify that most of them are localized in the triple-helical region domain. We suggest that the splice variant in signal peptide, von Willebrand factor type C, and nonhelical regions maintain their functionality or that individuals affected with severe cases die early in development and are not reported.
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spelling pubmed-96329752022-11-04 COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report Dirani, Michella Cuenca, Victor D. Romero, Vanessa I. Front Surg Surgery BACKGROUND: Osteogenesis imperfecta (OI) is a rare heterogeneous genetic disorder commonly autosomal dominant with variants in the COL1A1 and COL1A2 genes. It is characterized by bone fragility and deformity, recurrent fractures, blue sclera, dentinogenesis imperfecta, short stature, and progressive deafness. CASE PRESENTATION: We present a novel splicing mutation in the COL1A1 gene (c.2398-1G > C) in a 6-year-old Ecuadorian girl with fractures after light pressure and blue sclera. We identified the pathogenic variant, performed a literature review of splice variants, and recognized their location in the COL1A1 functional domains. CONCLUSION: We describe the first clinical description of a patient with OI type 1 caused by a splice variant in intron 34 of COL1A1 gene and identify that most of them are localized in the triple-helical region domain. We suggest that the splice variant in signal peptide, von Willebrand factor type C, and nonhelical regions maintain their functionality or that individuals affected with severe cases die early in development and are not reported. Frontiers Media S.A. 2022-09-15 /pmc/articles/PMC9632975/ /pubmed/36338653 http://dx.doi.org/10.3389/fsurg.2022.986372 Text en © 2022 Dirani, Cuenca and Romero. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Surgery
Dirani, Michella
Cuenca, Victor D.
Romero, Vanessa I.
COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report
title COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report
title_full COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report
title_fullStr COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report
title_full_unstemmed COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report
title_short COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report
title_sort col1a1 novel splice variant in osteogenesis imperfecta and splicing variants review: a case report
topic Surgery
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632975/
https://www.ncbi.nlm.nih.gov/pubmed/36338653
http://dx.doi.org/10.3389/fsurg.2022.986372
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