Bone Abstracts

Background: Cleidocranial dysplasia (CCD) is an autosomal-dominant skeletal dysplasia syndrome characterized by delayed closure of cranial sutures, remained-open fontanels, hypoplastic clavicles, abnormal dentition including retention of the primary teeth and delayed eruption of secondary dentition, and short stature. The responsible gene for CCD is RUNX2, which encodes an important transcription factor for osteoblast development and bone formation. CCD is caused by t...

Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disease with transforming growth factor-β1 (TGFβ1) gene mutation. In order to expand our limited knowledge of Chinese CED patients, we reported eight Chinese families (11 patients) diagnosed with CED. The study was approved the Department of Scientific Research of Peking Union Medical College Hospital. All the patients were evaluated genetically, clinically, biochemically and radiographically...

X-linked hypophosphatemic osteomalacia (XLH) is an inherited skeletal disorder. The pathogenesis of the disease is fibroblast growth factor 23 (FGF23) induced renal phosphate wasting, hypophosphatemia and inappropriate lower 1, 25-dihydroxy-vitamin D3 concentration, which lead to impaired bone mineralization. There are only a few studies focus on phenotype of XLH patients in adulthood. Therefore, this cross-sectional study systematically described anthropometric, cl...

TRPV4-associated skeletal dysplasias include: FDAB, ADBO, SMDK, SEDM, MD and Parastremmatic dysplasia. In this study, we recruited 3 families with congenital scoliosis and 1 family with localized digital osteopetrosis. We collected their clinical data and use the next-generation sequencing system, Sanger sequencing and RT-PCR to obtain the genetic diagnosis. Proband 1, 2, 3 all presented with early-onset kyphoscoliosis and short stature. X-ray showed platyspondyly, hemivertebr...

Objects: Seventy seven clinically diagnosed pseudohypoparathyroidism (PHP) patients from our hospital during 2000–2010 were recruited to analyze the clinical features and molecular genetics of Chinese PHP patients.Methods: The clinical data of the 77 PHP patients were retrospectively analyzed. Methylation status of GNAS was detected by combined bisulfiterestriction analysis. Genome DNA was extracted from peripheral blood lymphocytes. GN...

Objectives: Several genes have been recognized to be associated with nonsurgical hypoparathyroidism. Most previous studies focused on gene mutation among paediatric hypoparathyroidism patients. Data about gene mutations in adult-onset hypoparathyroidism patients is still lacking. This study was designed to evaluate the role of gene defects in the pathogenesis of adult-onset hypoparathyroidism in China through the targeted next-generation sequencing (NGS).<p class="abstext"...

Objective: Multiple endocrine neoplasia type 1-related PHPT (MHPT) differs in many aspects from sporadic PHPT (SHPT). The aims of the study were to summarize the clinical features of Chinese MHPT and compare the severity of the disease with SHPT.Design and methods: A total of 40 MHPT cases (27 sporadic, seven families) and 169 SHPT patients of Chinese descent were retrospectively analyzed. X-rays and ultrasound were used to assess the bone and urinary sy...

Objectives: For paediatric patients with hypoparathyroidism, genetic defects should be considered firstly. This study was to investigate the clinical features and analyse gene mutations of Chinese patients with child-onset hypoparathyroidism.Subjects and methods: We enrolled 35 paediatric patients with hypoparathyroidism at our clinical centre between 1984 and 2014. Clinical characteristics were collected and Targeted next-generation sequencing (NGS) was...

Paget disease of bone (PDB) is a common metabolic bone disease characterized by increased bone resorption and disorganized bone formation which can affect single or multiple sites of bone. Although the exact cause of PDB is still controversial, genetic factor is considered to play an important role in PDB. The causative gene of classical PDB was identified as Q8STM1 gene. Familial expansile osteolysis caused by the mutation of TNFRSF11A(RANKL) gene a...

Pseudovitamin D-deficiency rickets (PDDR) is a rare autosomal recessive disorder resulting from a defect in renal 25-hydroxyvitamin D 1α-hydroxylase, which is encoded by the CYP27B1 gene. To our best knowledge, 48 mutations of the CYP27B1 gene have been identified so far. In the present study, we investigated CYP27B1 mutations in seven individuals from six separate families and identified nine different mutations: two novel missense mutations (G194R, R259L), three novel a...