Institut de Recherches Cliniques de Montréal (IRCM), 110 avenue des Pins Ouest, Montréal, Québec H2W 1R7, Canada; Département de Médecine, Université de Montréal, Montréal, Québec, Canada.
Bone. 2022 Oct;163:116505. doi: 10.1016/j.bone.2022.116505. Epub 2022 Jul 25.
Autosomal recessive osteopetroses (ARO) are rare genetic skeletal disorders of high clinical and molecular heterogeneity with an estimated frequency of 1:250,000 worldwide. The manifestations are diverse and although individually rare, the various forms contribute to the prevalence of a significant number of affected individuals with considerable morbidity and mortality. Among the ARO classification, the most severe form is the autosomal recessive-5 (OPTB5) osteopetrosis (OMIM 259720) that results from homozygous mutation in the OSTM1 gene (607649). OSTM1 mutations account for approximately 5 % of instances of autosomal recessive osteopetrosis and lead to a highly debilitating form of the disease in infancy and death within the first few years of life (Sobacchi et al., 2013) [1].
常染色体隐性骨硬化症（ARO）是一种罕见的遗传性骨骼疾病，具有高度的临床和分子异质性，全球估计发病率为 1:250000。其临床表现多种多样，虽然每种表现形式都较为罕见，但各种形式加起来导致了相当数量的受累个体的患病率，这些患者具有相当高的发病率和死亡率。在 ARO 分类中，最严重的形式是常染色体隐性-5（OPTB5）骨硬化症（OMIM 259720），它是由 OSTM1 基因（607649）的纯合突变引起的。OSTM1 突变约占常染色体隐性骨硬化症的 5%，导致婴儿期出现严重的疾病形式，并在生命的头几年内死亡（Sobacchi 等人，2013）[1]。
