Identification of pathogenic genes for genetic diseases using next-generation sequencing and high-density microarray

新一代测序和高密度微阵列分析用于研究分子发病机制尚不明确的遗传病的致病基因。我们成功地鉴定了一个家族中肌病亚型的致病基因。我们还在先天性异常综合征和内分泌紊乱中发现了新的致病基因。这些结果将有助于了解这些疾病的发病机制和治疗手段的发展。

Next-generation sequencing and high-density microarray analysis were used to investigate disease-causing genes for genetic diseases in which molecular pathogenesis had not been clarified. We successfully identified a pathogenic gene for a subtype of myopathies in one family. We also identified novel disease-causing genes in a congenital anomaly syndrome and an endocrine disorder. The results would lead to the understanding of the pathogenesis of these disorders and the development of therapeutic means.