Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes.
autosomal recessive OI
collagen type one
molecular diagnosis of OI
next generation sequencing (NGS)
osteogenesis imperfecta (OI)
Journal
Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782
Informations de publication
Date de publication:
2023
2023
Historique:
received:
07
07
2023
accepted:
11
09
2023
medline:
7
11
2023
pubmed:
6
11
2023
entrez:
6
11
2023
Statut:
epublish
Résumé
Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous skeletal disorder. The majority of affected cases are attributed to autosomal dominant pathogenic variants (PVs) found in the In this study, we present the results of next-generation sequencing (NGS) analysis using a custom panel of 11 genes known to be associated with OI. This clinical study enrolled a total of 10 patients, comprising 7 male and 3 female patients from 7 families, all from the Puglia Region in South Italy, providing a detailed overview of their age, gender, family history, OI type, and non-skeletal features. The genetic analysis revealed 5 PVs in the The identification of these previously unreported PVs expands the variant spectrum of the
Identifiants
pubmed: 37929041
doi: 10.3389/fendo.2023.1254695
pmc: PMC10623311
doi:
Substances chimiques
Collagen Type I, alpha2 Subunit
0
Collagen Type I
0
Collagen Type I, alpha 1 Chain
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1254695Informations de copyright
Copyright © 2023 Paduano, Fischetto, Moretti, De Vito and Tatullo.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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