Searchable abstracts of presentations at key conferences in endocrinology

ea0039oc5.6 | Oral Communications 5 | BSPED2015

Bone histomorphometry in patients with TMEM38B mutations suggests a novel patho-mechanism leading to increased bone fragility

Webb Emma , Balasubramanian Meena , Fratzl-Zelman N , Titheradge H , Cole Trevor , Stewart S , Crabtree Nicola , Cabral W B , Owens B , Roschger P , Klaushofer K , Marini J C , Shaw N , Hogler W

Background: TMEM38B is a ubiquitously expressed monovalent cation-specific channel protein hypothesized to play a role in intracellular calcium homeostasis. To date, only two unique recessively inherited exon deletions in TMEM38B have been reported in 17 individuals with osteogenesis imperfecta (OI). Data on bone histomorphometry and bone material property have not previously been presented.Cases: Targeted next generation sequencing was performe...