Hagan Andrew, Amarillo Ina E
Department of Developmental Biology, Washington University in St Louis School of Medicine, Saint Louis, MO, USA.
Cytogenetics and Molecular Pathology Laboratory, Division of Laboratory and Genomic Medicine, Department of Pathology and Immunology, Washington University in St Louis School of Medicine, Saint Louis, MO, USA.
Hum Genome Var. 2017 Apr 13;4:17011. doi: 10.1038/hgv.2017.11. eCollection 2017.
Retrospective chromosome microarray analysis of 83 genes within the fibroblast growth factor signaling pathway in 52 patients with heterogeneous differences in sex development (DSD) revealed small copy-number variations (CNVs) in ~31% (=26) of investigated genes. Roughly half of these genes (39/83) are ⩽50 kb. This study highlights the potential involvement of small CNVs in disrupting normal gene function and dysregulating genes of the FGF pathway associated with DSD.
对52例性发育差异（DSD）情况各异的患者的成纤维细胞生长因子信号通路中的83个基因进行回顾性染色体微阵列分析，结果显示，在约31%（=26个）的被研究基因中存在小拷贝数变异（CNV）。这些基因中约一半（39/83）长度小于等于50 kb。本研究强调了小CNV在破坏正常基因功能以及失调与DSD相关的FGF通路基因方面的潜在作用。
