What is new in genetics and osteogenesis imperfecta classification?

Valadares, Eugênia Ribeiro; Carneiro, Túlio B.; Santos, Paula M.; Oliveira, Ana Cristina; Zabel, Bernhard

doi:10.1016/j.jpedp.2014.05.007

Cited by 9 publications

(9 citation statements)

References 33 publications

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“…The COL1A1 and COL1A2 genes encode the two alpha chains (alpha 1 and alpha 2, respectively) of collagen type 1 that trimerize to form the procollagen 1 molecule, 29 the main component of bone matrix. Μutations in these genes account for approximately 90% of osteogenesis imperfecta (oI), which is a form of inherited osteoporosis in children characterized by low bone mass, fragile bone with increased fracture risk, blue sclerae, and in some cases impaired odontogenesis.…”

Section: Discussionmentioning

confidence: 99%

Severe osteoporosis with multiple spontaneous vertebral fractures in a young male carrying triple polymorphisms in the vitamin D receptor, collagen type 1, and low-density lipoprotein receptor-related peptide 5 genes

Yavropoulou

Kollia

Chatzidimitriou

et al. 2017

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Case report HORMONES 2016, 15(4):551-556 Address for correspondence: Maria P. Yavropoulou, MD, MSc, PhD, Endocrinologist, Senior Registrar NHS, Division of Endocrinology and Metabolism, 1st Department of Internal Medicine, AHEPA Univ. Hospital, 1 S. Kyriakidi Str., 54636, Thessaloniki, Greece; Tel.: +30 2310 993187, Fax: +30 2310 993187, E-mail: margia@med.auth.gr, Webpage: http://www.maria-yavropoulou.eu/ Received: 21-09-201621-09- , Accepted: 20-10-2016 552 M.P. YAVRoPoULoU ET AL col1A1, and lpr-5 genes in a young male adult caused severe osteoporosis with multiple fractures, suggesting a combined effect and/or interaction between these genes.

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Section: Discussionmentioning

confidence: 99%

Severe osteoporosis with multiple spontaneous vertebral fractures in a young male carrying triple polymorphisms in the vitamin D receptor, collagen type 1, and low-density lipoprotein receptor-related peptide 5 genes

Yavropoulou

Kollia

Chatzidimitriou

et al. 2017

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“…16) However, with an increase in newly identified causative genes, OI is now shown to be a highly divergent disease with different inheritance patterns, variable severities and multifaceted clinical conditions, and thus Sillence's classification has been repeatedly revised. In parallel, genetics-based OI classifications were proposed, 17,18) but it became impossible to maintain pathological correlations between Sillence's types and OI-responsible genes, as shown in Table 1. To avoid confusing implications in clinical practice, in 2009 the International Society of Skeletal Dysplasias released a standard classification, in which Sillence's typing is maintained as the prototypical form.…”

Section: Osteogenesis Imperfecta (Oi)mentioning

confidence: 99%

TRIC-B Mutations Causing Osteogenesis Imperfecta

Ichimura

Takeshima

2016

Biological & Pharmaceutical Bulletin

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Trimeric intracellular cation (TRIC) channel subtypes, namely TRIC-A and TRIC-B, are expressed in the endoplasmic/sarcoplasmic reticulum and nuclear envelope, and likely function as monovalent cation channels in various cell types. Our studies using knockout mice so far suggest that TRIC subtypes support Ca 2 release from intracellular stores by mediating counter-cationic fluxes. Several genetic mutations within the TRIC-B locus were recently identified in autosomal recessive osteogenesis imperfecta (OI) patients. However, the molecular mechanism by which the mutations cause human disease is not fully addressed. We found that Tric-b-knockout mice exhibit poor bone ossification and thus serve as an OI-model animal. Studies on Tric-b-knockout bones and cultured cell lines derived from the patients currently reveal the main part of the pathophysiological mechanism involved in the TRIC-B-mutated OI form. This mini-review focuses on the essential role of TRIC-B channels in bone ossification.

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“…The incidence of the different types of OI is approximately 1/15.000-20.000 births and most cases are due to autosomal dominant inheritance with mutations in collagen, type 1 alpha-1, type 1 alpha-2 (COL1A1 or COL1A2) genes, which encode the alpha 1 and alpha 2 chains of type 1 collagen (51). Mutations in COL1A1 and COL1A2 genes altering the structure or the amount of type 1 collagen, result in a skeletal phenotype that ranges from subclinical to lethal (51). Furthermore, there are several mutant noncollagen genes causing the 5-10% of recessive cases, such as CRTAP, LEPRE1, PPIB, PLOD2, FKBP10, SERPIN H1, SERPIN F1, BMP1, IFITM5 genes.…”

Section: Metabolic Bone Diseasementioning

confidence: 99%

Rare causes of osteoporosis

Marcucci

Brandi

2015

ccmbm

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SummaryOsteoporosis is a metabolic bone disease characterized by loss of bone mass and strength, resulting in increased risk of fractures. It is classically divided into primary (postmenopausal or senile), secondary and idiopathic forms. There are many rare diseases, that cause directly or indirectly osteoporosis. The identification and classification of most of these rare causes of osteoporosis is crucial for the specialists in endocrinology and not, in order to prevent this bone complication and to provide for an early therapy. Several pathogenic mechanisms are involved, including various aspects of bone metabolism such as: decreased bone formation, increased bone resorption, altered calcium, phosphorus and/or vitamin D homeostasis, and abnormal collagen synthesis. In this review, less common forms of primary and secondary osteoporosis are described, specifying, if applicable: genetic causes, epidemiology, clinical features, and pathogenic mechanisms causing osteoporosis. A greater awareness of all rare causes of osteoporosis could reduce the number of cases classified as idiopathic osteoporosis and allow the introduction of appropriate and timely treatments.

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What is new in genetics and osteogenesis imperfecta classification?

Cited by 9 publications

References 33 publications

Severe osteoporosis with multiple spontaneous vertebral fractures in a young male carrying triple polymorphisms in the vitamin D receptor, collagen type 1, and low-density lipoprotein receptor-related peptide 5 genes

Severe osteoporosis with multiple spontaneous vertebral fractures in a young male carrying triple polymorphisms in the vitamin D receptor, collagen type 1, and low-density lipoprotein receptor-related peptide 5 genes

TRIC-B Mutations Causing Osteogenesis Imperfecta

Rare causes of osteoporosis

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