Abstract：
Odontochondrodysplasia (ODCD, OMIM #184260) is a rare, non-lethal skeletal dysplasia characterized by involvement of the spine and metaphyseal regions of the long bones, pulmonary hypoplasia, short stature, joint hypermobility, and dentinogenesis imperfecta. ODCD is inherited in an autosomal recessive fashion with an unknown frequency caused by mutations of the thyroid hormone receptor interactor 11 gene (TRIP11; OMIM *604505). The TRIP11 gene encodes the Golgi microtubule-associated protein 210 (GMAP-210), which is an indispensable protein for the function of the Golgi apparatus. Mutations in TRIP11 also cause achondrogenesis type 1A (ACG1A). Null mutations of TRIP11 lead to ACG1A, also known as a lethal skeletal dysplasia, while hypomorphic mutations cause ODCD. Here we report a male child diagnosed as ODCD with a novel compound heterozygous mutation who presented with skeletal changes, short stature, dentinogenesis imperfecta, and facial dysmorphism resembling achondroplasia and hypochondroplasia.
摘要：
牙软骨发育不良（ODCD，OMIM#184260)是一种罕见的，非致命性骨骼发育不良，其特征是累及长骨的脊柱和干phy端区域，肺发育不全,身材矮小,关节过度活动,和牙本质发育不全。ODCD以常染色体隐性方式遗传,其频率未知,由甲状腺激素受体相互作用因子11基因(TRIP11;OMIM*604505)的突变引起。TRIP11基因编码高尔基微管相关蛋白210（GMAP-210），是高尔基体功能不可缺少的蛋白质.TRIP11中的突变也会引起软骨分化1A型(ACG1A)。TRIP11的空突变导致ACG1A，也被称为致命的骨骼发育不良，而低形态突变引起ODCD。在这里，我们报告了一个被诊断为ODCD的男性儿童，该儿童具有一种新型的复合杂合突变，该突变具有骨骼变化，身材矮小,牙本质发育不全,和类似软骨发育不全和软骨发育不全的面部畸形。
