Searchable abstracts of presentations at key conferences on calcified tissues

ba0005p96 | Calciotropic and phosphotropic hormones and mineral metabolism | ECTS2016

Clinical characterization and genetic analysis of TRPV4-related skeletal dysplasias in 4 Chinese families

Chi Yue , Pang Qianqian , Xu Lijun , Jiang Yan , Li Mei , Wang Ou , Xing Xiaoping , Meng Xunwu , Zhou Xueying , Xia Weibo

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...

ba0005p433 | Other diseases of bone and mineral metabolism | ECTS2016

Genetic and clinical characteristics of Chinese pseudohypoparathyroidism patients

Chu Xueying , Zhu Yan , Nie Min , Wang Ou , Jiang Yan , Xia Weibo , Xing Xiaoping , Meng Xunwu , Li Mei

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...

ba0005p437 | Other diseases of bone and mineral metabolism | ECTS2016

Evaluation of targeted next-generation sequencing in diagnosis of Chinese adult-onset idiopathic hypoparathyroidism

Li Yuepeng , Wang Ou , Quan Tingting , Chu Xueying , Xia Weibo , Li Mei , Jiang Yan , Meng Xunwu , Xing Xiaoping

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"...

ba0005p445 | Other diseases of bone and mineral metabolism | ECTS2016

Clinical and genetic analysis of multiple endocrine neoplasia type 1-related primary hyperparathyroidism in Chinese: a single-center experience over ten years

Kong Jing , Wang Ou , Nie Min , Shi Jie , Hu Yingying , Jiang Yan , Li Mei , Xia Weibo , Meng Xunwu , Xing Xiaoping

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...

ba0005p477 | Paediatric bone disease | ECTS2016

Clinical features and targeted gene sequencing analysis of paediatric hypoparathyroidism

Li Yuepeng , Wang Ou , Quan Tingting , Chu Xueying , Xia Weibo , Li Mei , Jiang Yan , Meng Xunwu , Xing Xiaoping

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...

ba0005p481 | Paediatric bone disease | ECTS2016

Mutation update and short-term outcome after treatment with active vitamin D3 in Chinese patients with pseudo-vitamin D-deficiency rickets

Chi Yue , Sun Jing , Pang Li , Jiajue Ruizhi , Jiang Yan , Wang Ou , Li Mei , Xing Xiaoping , Hu Yingying , Zhou Xueying , Meng Xunwu , Xia Weibo

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...