Osteogenesis imperfecta type V: Genetic and clinical findings in eleven Chinese patients

Liu, Yi; Wang, Jiawei; Ma, Dongjie; Lv, Fang; Xu, Xiaowei; Xia, Weibo; Jiang, Yan; Wang, Ou; Xing, Xiaoping; Zhou, Peiran; Wang, Jianyi; Yu, Wei; Asan,; Li, Mei

doi:10.1016/j.cca.2016.09.019

Cited by 10 publications

(4 citation statements)

References 40 publications

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“…The c.-14C > T change identified in one patient in our sample is a recurrent mutation in the IFITM5 gene described in the literature (Liu et al , 2016, Guan et al , 2017). Bardai et al (2016) found this mutation in 5% of the patients, and a very similar frequency was found in the patients from our sample.…”

Section: Discussionsupporting

confidence: 54%

Osteogenesis imperfecta in Brazilian patients

et al. 2019

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Osteogenesis Imperfecta (OI) is a heterogeneous genetic disorder characterized by bone fragility and fracture. Mutations in 20 distinct genes can cause OI, and therefore, the genetic diagnosis of OI is frequently difficult to obtain because of the great number of genes that can be related with this disease. Studies that report the most frequently mutated genes in OI patients can help to improve molecular strategies for diagnosis of the disease. In order to characterize the mutation profile of OI in Brazilian patients, we analyzed 30 unrelated patients through SSCP screening, NGS gene panel, and/or Sanger sequencing for the 11 most frequently mutated genes in the database of mutations, including COL1A1 , COL1A2, P3H1 , CRTAP , PPIB , SERPINH1 , SERPINF1 , FKBP10, SP7, WNT1 and IFITM5 . Disease-causing variants were identified in COL1A1 , COL1A2 , FKBP10, P3H1, and IFITM5 . A total of 28 distinct mutations were identified, including seven novel changes. Our data show that the analysis of these five genes is able to detect at least 95% of causative mutations in OI disorder from Brazilian population. However, it has to be taken into considerations that distinct populations can have different frequencies of disease-causing variants. Hence, it is important to replicate this study in other groups.

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Section: Discussionsupporting

confidence: 54%

Osteogenesis imperfecta in Brazilian patients

et al. 2019

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“…In general, they have a moderate form of the disorder, clinically similar to OI type IV in severity. OI type V shares an increased fracture incidence with the other OI types due to low bone mass [35] and impaired bone quality [34]. However, it has distinctive features such as the formation of hyperplastic callus during fracture healing, periosteal hyperplastic expansion, calcification of the interosseous membrane in the forearm, subphyseal radiodense line and distinctive mesh-like lamellation of the collagen on bone sections.…”

Section: Bril and Pedf: Modulators Of Bone Mineralizationmentioning

confidence: 99%

Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes

et al. 2019

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The limited accessibility of bone and its mineralized nature have restricted deep investigation of its biology. Recent breakthroughs in identification of mutant proteins affecting bone tissue homeostasis in rare skeletal diseases have revealed novel pathways involved in skeletal development and maintenance. The characterization of new dominant, recessive and X‐linked forms of the rare brittle bone disease osteogenesis imperfecta (OI) and other OI‐related bone fragility disorders was a key player in this advance. The development of in vitro models for these diseases along with the generation and characterization of murine and zebrafish models contributed to dissecting previously unknown pathways. Here, we describe the most recent advances in the understanding of processes involved in abnormal bone mineralization, collagen processing and osteoblast function, as illustrated by the characterization of new causative genes for OI and OI‐related fragility syndromes. The coordinated role of the integral membrane protein BRIL and of the secreted protein PEDF in modulating bone mineralization as well as the function and cross‐talk of the collagen‐specific chaperones HSP47 and FKBP65 in collagen processing and secretion are discussed. We address the significance of WNT ligand, the importance of maintaining endoplasmic reticulum membrane potential and of regulating intramembrane proteolysis in osteoblast homeostasis. Moreover, we also examine the relevance of the cytoskeletal protein plastin‐3 and of the nucleotidyltransferase FAM46A. Thanks to these advances, new targets for the development of novel therapies for currently incurable rare bone diseases have been and, likely, will be identified, supporting the important role of basic science for translational approaches.

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“…Type V OI, due to an autosomal dominant mutation in IFTITM5, is recognized by hypercallus formation and calcification of the intraosseous membrane (Liu et al, 2016). An autosomal recessive mutation in SERPINF1 is responsible for type VI (Harrington et al, 2014).…”

Section: Osteogenesis Imperfectamentioning

confidence: 99%

“…FGFR3 negatively regulates bone growth (Faruqi et al, 2014). Its elevated function leads to irregular endochondral ossification (Wendt et al, 2015; Yap and Savarirayan, 2016) and underdeveloped linear bone growth (Liu et al, 2016) resulting from interrupted differentiation of chondrocytes (Yasoda et al, 2009; Wendt et al, 2015; Klag and Horton, 2016). …”

Section: Achondroplasiamentioning

confidence: 99%

Skeletal Dysplasias: Growing Therapy for Growing Bones

et al. 2017

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Skeletal dysplasias represent a large and diverse group of rare conditions affecting collagen and bone. They can be clinically classified based on radiographic and physical features, and many can be further defined at a molecular level (Bonafe et al., 2015). Early diagnosis is critical to proper medical management including pharmacologic treatment when available. Patients with severe skeletal dysplasias often have small chests with respiratory insufficiency or airway obstruction and require immediate intubation after birth. Thereafter a variety of orthopedic, neurosurgical, pulmonary, otolaryngology interventions may be needed. In terms of definitive treatment for skeletal dysplasias, there are few pharmacotherapeutic options available for the majority of these conditions. We sought to describe therapies that are currently available or under investigation for skeletal dysplasias.

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Osteogenesis imperfecta type V: Genetic and clinical findings in eleven Chinese patients

Cited by 10 publications

References 40 publications

Osteogenesis imperfecta in Brazilian patients

Osteogenesis imperfecta in Brazilian patients

Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes

Skeletal Dysplasias: Growing Therapy for Growing Bones

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