Nosology and classification of genetic skeletal disorders: 2019 revision
Nosology and classification of genetic skeletal disorders: 2019 revision
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DOI：
10.1002/ajmg.a.61366
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发表时间：
2019-10-21
影响因子：
2
通讯作者：
Warman, Matthew L.
中科院分区：
文献类型：
--
作者：
Mortier, Geert R.;Cohn, Daniel H.;Warman, Matthew L.
大规模并行测序技术在骨骼疾病领域的应用促进了许多此类疾病的潜在遗传缺陷的发现。它还导致了新的临床实体的描述，并确定了以前与骨骼疾病无关的基因和途径。这些快速的进展促使国际骨骼发育不良协会的病因学委员会修订和更新了最后(2015)版的《遗传性骨骼疾病病因学和分类》。这一最新的也是第十版的病因学包括461种不同的疾病，根据它们的临床、放射学和/或分子表型被分为42组。值得注意的是，在这些疾病中，425/461(92%)发现了影响437个不同基因的致病变异。通过提供公认实体及其因果基因的参考清单，病因学应该帮助临床医生为他们的患者实现准确的诊断，并帮助科学家推进骨骼生物学的研究。
The application of massively parallel sequencing technology to the field of skeletal disorders has boosted the discovery of the underlying genetic defect for many of these diseases. It has also resulted in the delineation of new clinical entities and the identification of genes and pathways that had not previously been associated with skeletal disorders. These rapid advances have prompted the Nosology Committee of the International Skeletal Dysplasia Society to revise and update the last (2015) version of the Nosology and Classification of Genetic Skeletal Disorders. This newest and tenth version of the Nosology comprises 461 different diseases that are classified into 42 groups based on their clinical, radiographic, and/or molecular phenotypes. Remarkably, pathogenic variants affecting 437 different genes have been found in 425/461 (92%) of these disorders. By providing a reference list of recognized entities and their causal genes, the Nosology should help clinicians achieve accurate diagnoses for their patients and help scientists advance research in skeletal biology.