ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2013
Next-generation sequencing for disorders of low and high bone mineral density.
Article in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed.
- Novel SNP Combination for Predictive Osteoporotic Diagnosis.International journal of molecular sciences · 2025Article
- Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity.JBMR plus · 2022Article
- Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.International journal of molecular sciences · 2022Article
- SAP30BP gene is associated with the susceptibility of rotator cuff tear: a case-control study based on Han Chinese population.Journal of orthopaedic surgery and research · 2020Article
- Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect.Molecular genetics & genomic medicine · 2019Article
- Osteogenesis imperfecta and therapeutics.Matrix biology : journal of the International Society for Matrix Biology · 2018Review
- Article
- A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes.Medicine · 2017Article
- Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid.Journal of human genetics · 2017Article
- Osteogenesis imperfecta in children and adolescents-new developments in diagnosis and treatment.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2016Review
- Pharmacological and biological therapeutic strategies for osteogenesis imperfecta.American journal of medical genetics. Part C, Seminars in medical genetics · 2016Review
- Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice.Scientific reports · 2016Article
- Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta.Journal of human genetics · 2016Article
- Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Article
- Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.Molecular genetics and metabolism · 2014Article
- Rapid skeletal turnover in a radiographic mimic of osteopetrosis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2014Article
- As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2014Article
- Article
- Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2014Review
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16 authors.
Funding
Abstract
unlabelledTo achieve an efficient molecular diagnosis of osteogenesis imperfecta (OI), Ehlers-Danlos syndrome (EDS), and osteopetrosis (OPT), we designed a next-generation sequencing (NGS) platform to sequence 34 genes. We validated this platform on known cases and have successfully identified the causative mutation in most patients without a prior molecular diagnosis.
introductionOsteogenesis imperfecta, Ehlers-Danlos syndrome, and osteopetrosis are collectively common inherited skeletal diseases. Evaluation of subjects with these conditions often includes molecular testing which has important counseling and therapeutic and sometimes legal implications. Since several different genes have been implicated in these conditions, Sanger sequencing of each gene can be a prohibitively expensive and time-consuming way to reach a molecular diagnosis.
methodsIn order to circumvent these problems, we have designed and tested a NGS platform that would allow simultaneous sequencing on a single diagnostic platform of different genes implicated in OI, OPT, EDS, and other inherited conditions, leading to low or high bone mineral density. We used a liquid-phase probe library that captures 602 exons (~100 kb) of 34 selected genes and have applied it to test clinical samples from patients with bone disorders.
resultsNGS of the captured exons by Illumina HiSeq 2000 resulted in an average coverage of over 900X. The platform was successfully validated by identifying mutations in six patients with known mutations. Moreover, in four patients with OI or OPT without a prior molecular diagnosis, the assay was able to detect the causative mutations.
conclusionsIn conclusion, our NGS panel provides a fast and accurate method to arrive at a molecular diagnosis in most patients with inherited high or low bone mineral density disorders.
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