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...

ba0005p242 | Genetics and Epigenetics | ECTS2016

A family with Paget disease of bone caused by a novel mutation of hnRNPA2B1 gene

Qi Xuan , Pang Qianqian , Wang Jiawei , Zhao Zhen , Wang Ou , Xu Lijun , Mao Jiangfeng , Jiang Yan , Li Mei , Xing Xiaoping , Yu Wei , San A , Xia Weibo

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...