Abstract:
:Here we report the identification of two different mutations in chloride channel 7 gene in two unrelated patients with autosomal dominant osteopetrosis type II. We determined that one patient (a 32-year-old woman) carried a heterozygous gene for a R767W mutation in exon 24, and another patient (a 17-year-old boy) carried a heterozygous gene for a novel frameshift mutation (Glu798FS) in exon 25. Recent studies have reported loss-of-function mutations in the chloride channel 7 (CLCN7) gene as a cause of autosomal dominant osteopetrosis type II (ADO-II). The identification of gene mutations in Chinese with ADO has not been reported previously. In this study, we identified mutations of the CLCN7 gene in two unrelated Chinese families with ADO-II. Two probands with ADO-II were diagnosed based on their bone characteristics on X-rays and their laboratory results. All 25 exons of the CLCN7 gene, including the exon-intron boundaries, were sequenced. We found in family 1 that the proband (a 32-year-old woman) was heterozygous for a CLCN7 mutation. The nonsynonymous mutation consisted of a heterozygous C/T transition at codon 2327 in exon 24, which resulted in an arginine (CGG)-to tryptophan (TGG) substitution at position 767 (R767W). The same heterozygous mutation (C/T) was determined in her father and son, who were asymptomatic with normal skeleton radiography. In family 2, we found that the proband (a 17-year-old boy) carried a novel frameshift mutation (Glu798FS) resulting from a G insertion between codon 60 and codon 61 in exon 25. The heterozygous -/G insertion is predicted to elongate the peptide of CLCN7 by 120 amino acids after position 797 amino acids. Similarly, some individuals of this family carried the same heterozygous mutation, but they are all asymptomatic. Furthermore, the R767W and Glu798FS mutations were not found in 100 unrelated controls. Our present findings suggest that the novel Glu798FS mutation in exon 25 and R767W in exon 24 in the CLCN7 gene were responsible for ADO-II in these Chinese patients.
journal_name
J Bone Miner Metabjournal_title
Journal of bone and mineral metabolismauthors
Zhang ZL,He JW,Zhang H,Hu WW,Fu WZ,Gu JM,Yu JB,Gao G,Hu YQ,Li M,Liu YJdoi
10.1007/s00774-009-0051-0subject
Has Abstractpub_date
2009-01-01 00:00:00pages
444-51issue
4eissn
0914-8779issn
1435-5604journal_volume
27pub_type
杂志文章abstract::Stimulation of osteoblast proliferation and differentiation is important for the in vivo bone-bonding ability of biomaterials. Previous in vitro studies have used biochemical assays to analyze osteoblast-specific gene expression in cultured osteoblasts. In this study, we generated transgenic mice harboring a monomeric...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-013-0544-8
更新日期:2014-11-01 00:00:00
abstract::In 50 premenarcheal girls selected from the lowest and highest end of the calcium-intake distribution of a large population sample, we evaluated bone mineral density (BMD), together with the following hormonal-metabolic parameters: androstenedione (ASD), dehydroepiandrosterone (DHEA), dehydroepiandrosterone sulfate (D...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-003-0451-5
更新日期:2004-01-01 00:00:00
abstract::Bone mass acquisition may be compromised in survivors of childhood acute lymphocytic leukemia due to various factors, including adiposity. Fat accumulation can affect bone through the direct effect of adipokines or indirectly through the state of chronic inflammation. The aim of this study was to evaluate the effect o...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1007/s00774-015-0728-5
更新日期:2017-01-01 00:00:00
abstract::A link between vascular calcification and bone anomalies has been suggested in chronic kidney disease (CKD) patients with low bone turnover disease. We investigated the vascular expression of osteocyte markers in relation to bone microarchitecture and mineralization defects in a model of low bone turnover CKD rats wit...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-018-0919-y
更新日期:2019-03-01 00:00:00
abstract::The present study examined the early effects of prostaglandin (PG)E2 on proximal tibial metaphyses of 20-month-old Wistar male rats. PGE, was given to intact rats for 10 and 30 days at 3mg/kg/day. After multiple in vivo fluorochrome labeling, undecalcified longitudinal sections were subjected to analysis of bone histo...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s007740170057
更新日期:2001-01-01 00:00:00
abstract::Hypophosphatasia is a rare inherited disorder characterized by a low serum alkaline phosphatase (ALP) activity and defective bone mineralization. Adult hypophosphatasia typically manifests in middle-age as a result of osteomalacia with recurrent stress fractures of the lower limb. However, considerable variation occur...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-011-0338-9
更新日期:2012-11-01 00:00:00
abstract::The aim of this study was to survey the incidence of osteoporotic fragility fractures, which include vertebral, hip, distal radius, and proximal humerus fractures, in patients ≥ 50 years of age, from 2004 to 2015, in Sado City, Japan. We examined temporal changes in the incidence of these fractures from 2010 through 2...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-018-0937-9
更新日期:2019-05-01 00:00:00
abstract::Alendronate has recently been approved for the prevention and treatment of postmenopausal osteoporosis, and its efficacy has been demonstrated in many Western countries. Our present study was performed to evaluate the effect of alendronate on bone mineral density (BMD) and its tolerability in Thais. Eighty postmenopau...
journal_title:Journal of bone and mineral metabolism
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/s00774-003-0438-2
更新日期:2003-01-01 00:00:00
abstract::Fracture healing is a complex biological process involving the proliferation of mesenchymal progenitor cells, and chondrogenic, osteogenic, and angiogenic differentiation. The mechanisms underlying the proliferation and differentiation of mesenchymal progenitor cells remain unclear. Here, we demonstrate Dickkopf-relat...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-015-0711-1
更新日期:2016-11-01 00:00:00
abstract::This study was carried out to evaluate the clinical validity and usefulness of serum tartrate-resistant fluoride-sensitive acid phosphatase (TrFsACP) activity using 2,6-dichloro-4-acetylphenyl phosphate as substrate at pH 6.2 in metabolic bone diseases. The mean Z-scores of TrFsACP activity in patients on hemodialysis...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s007740050075
更新日期:1999-01-01 00:00:00
abstract::The prevalence and pattern of joint involvement in radiographic hand osteoarthritis (OA) have been reported in Western populations, but similar data are lacking for Japanese. We examined this issue in 551 Japanese women aged > or = 40 years. Radiographs were obtained of both hands and graded according to the Kellgren-...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-006-0693-0
更新日期:2006-01-01 00:00:00
abstract::Measurements of bone biochemical markers are increasingly being used to evaluate the state of bone turnover in the management of bone metabolic diseases, especially osteoporosis. However, changes in the bone turnover rate vary with age. The aim of this study was to establish the laboratory reference range of serum bon...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-006-0703-2
更新日期:2006-01-01 00:00:00
abstract::Chronic liver disease in adults is a risk factor of osteoporosis, but little is known about risk of fractures in children with non-cholestatic liver disease. The aim of this study was to investigate associations among the severity of liver fibrosis, bone mass and low-energy fractures in children. History of fractures,...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-010-0219-7
更新日期:2011-05-01 00:00:00
abstract::Osteotropic growth factors play an important role in bone metabolism. Nevertheless, knowledge about their expression in relation to distraction osteogenesis remains limited. The aim of the present study was to determine the expression of growth hormone (GH), growth hormone receptor (GHR), insulin-like growth factor I ...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-006-0683-2
更新日期:2006-01-01 00:00:00
abstract::Variation in drug response to hormone replacement therapy (HRT) may reflect genetic heterogeneity in the estrogen-related genes, possibly including estrogen receptor alpha (ERalpha) gene. However, only a few association studies of the drug response to HRT have been reported, focusing mainly on the intronic polymorphis...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-005-0619-2
更新日期:2005-01-01 00:00:00
abstract::We investigated the enhancement of new bone |formation elicited ectopically by recombinant human bone morphogenetic protein-2 (rhBMP-2), using parathyroid hormone (PTH) and a phosphodiesterase inhibitor (PDEi), pentoxifylline (PTX), in an animal model. Collagen sponge sheet discs containing rhBMP were implanted onto t...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-003-0490-y
更新日期:2004-01-01 00:00:00
abstract::Three-dimensional (3D) alteration of trabecular microarchitecture is a risk factor for vertebral fractures. Histomorphometry allows microarchitectural analysis of bone, but the necessity to perform a transiliac bone biopsy limits its use in large series of patients. X-Ray films are commonly used in routine practice an...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-004-0536-9
更新日期:2005-01-01 00:00:00
abstract::In the course of complex regional pain syndrome (CRPS), local osteopenia in the subchondral/subcortical areas of the affected limb represents a central manifestation. Mechanistic aspects of CRPS-associated pathologies remain unclear, and knowledge about bone morphology in CRPS-affected areas is rare. The aim of this s...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-018-0976-2
更新日期:2019-07-01 00:00:00
abstract::In this study, we focused on collagen metabolism as a factor involved in menatetrenone (MK-4)-related improvement in bone quality. Using rats with a congenital ascorbic acid (AA) deficiency, osteogenic disorder Shionogi (ODS) rats, we established a model in which abnormal collagen metabolism reduced bone mechanical pr...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-009-0069-3
更新日期:2009-01-01 00:00:00
abstract::There is no well-established treatment for osteoporosis in male patients with leprosy, because no clinical trials have examined the efficacy of treatment on bone mineral density (BMD) or fracture incidence in patients with leprosy. In this study, we report a case of osteoporosis in a man with leprosy, treated by oral ...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-004-0546-7
更新日期:2005-01-01 00:00:00
abstract::It has been suggested that there are several possible linkages between vascular calcification and osteoporosis. In addition, the processes of vascular calcification may have a common etiology with bone formation. Thus, we hypothesized that the serum levels of bone metabolic markers would be different between osteoporo...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-004-0528-9
更新日期:2004-01-01 00:00:00
abstract::Menin, a product of the MEN1 gene, is related to the ontogeny of several cancers such as MEN1 and sporadic endocrine tumors, although it is considered to be a tumor suppressor. Many proteins interact with menin, and it is involved in various biological functions in several tissues. Menin plays some physiological and p...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章,评审
doi:10.1007/s00774-012-0355-3
更新日期:2012-07-01 00:00:00
abstract::This study aimed to estimate the prevalence of locomotive syndrome, sarcopenia, and frailty and clarify their co-existence in a population-based cohort. The third survey of Research on Osteoarthritis/Osteoporosis Against Disability (ROAD) study was conducted between 2012 and 2013, examining 963 subjects (aged ≥ 60 yea...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-019-01012-0
更新日期:2019-11-01 00:00:00
abstract::Parathyroid hormone (PTH) is a potent anabolic agent, but the cellular mechanisms by which it increases bone mass are not fully understood. Dickkopf 1 (Dkk1) is an endogenous inhibitor of Wnt signaling and suppresses bone formation in vivo. We sought to determine if Dkk1 and anabolic PTH treatment interact in regulati...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-010-0202-3
更新日期:2011-03-01 00:00:00
abstract::Expression of the genes encoding bone morphogenetic proteins (BMPs), BMP type IA receptor (BMPR-1A), and rat distal-less homolog (rDlx) was studied in bone, callus, and the surrounding soft tissue following rat femoral closed fracture, using RT-PCR-based techniques. Before fracture, the genes encoding BMP-5, BMP-6, an...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s007740050013
更新日期:2000-01-01 00:00:00
abstract::In order to investigate the effect of manganese (Mn) deficiency on bone metabolism in chicks, ninety 1-day-old male Arbor Acre chicks were randomly divided into 3 groups and each group were given a diet having a different concentration of Mn (60 mg kg(-1), control group; 40 mg kg(-1), Mn-deficient group I; 8.7 mg kg(-...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-012-0417-6
更新日期:2013-05-01 00:00:00
abstract::Metformin, an anti-hyperglycemic agent used for type 2 diabetes, has recently been found to have more effects apart from glucose regulation. We found that, in ultra-high-molecular-weight polyethylene particle-induced osteolysis mouse models, metformin had bone protect property and reduced the negative regulator of bon...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-018-0939-7
更新日期:2019-05-01 00:00:00
abstract::Bone development up to early adulthood plays an important role in determining the risk of osteoporosis later in life. However, bone development in children has not been fully documented by longitudinal studies in Japanese children. The purpose of this study is to determine the degree of tracking of areal bone mineral ...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-010-0213-0
更新日期:2011-03-01 00:00:00
abstract::Recent studies have suggested that a high level of recent physical activity increases the risk of a wrist fracture in postmenopausal women. The relationship of more distant past physical activity to wrist fracture is less clear, and most studies have relied on recall of physical activity much earlier in life. The aim ...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s00774-006-0715-y
更新日期:2006-01-01 00:00:00
abstract::The effects of basic fibroblast growth factor (bFGF) on osteogenic differentiation in-vivo were investigated using a rat bone marrow ablation model. bFGF was infused directly into rat femora for 6 days after bone marrow ablation. The contralateral femur was infused with vehicle only and used as control. Bone formation...
journal_title:Journal of bone and mineral metabolism
pub_type: 杂志文章
doi:10.1007/s007740300012
更新日期:2003-01-01 00:00:00