[一个患并指/并趾畸形的中国家系中致病突变的鉴定]
[Identification of pathogenic mutation in a Chinese pedigree affected with split hand/split foot malformation].
作者信息
Zhuo Zhihong, Zhai Yiwen, Jin Peina, Yan Wenhao, Kong Huimin, Fang Xiao, Li Fengyan, Luo Qiang, Kong Xiangdong, Wang Huaili
机构信息
Department of Pediatrics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Dec 10;35(6):808-811. doi: 10.3760/cma.j.issn.1003-9406.2018.06.007.
OBJECTIVE
To detect potential mutation in a Chinese pedigree affected with split hand/split foot malformation (SHFM).
METHODS
The patients were screened for genome-wide copy number variations with single nucleotide polymorphism (SNP) microarray. Copy number variations were verified by real-time fluorescence quantitative PCR.
RESULTS
There were 3 SHFM patients from three generations, which conformed to an autosomal dominant inheritance. SNP microarray assay revealed that all patients have carried a 0.34 Mb duplication in 10q24.31-q24.32 (102 993 649-103 333 271) encompassing the BTRC and DPCD genes. The result was verified by real-time fluorescence quantitative PCR, confirming that the duplication has co-segregated with the SHFM phenotype in the pedigree.
CONCLUSION
The 10q24.31-q24.32 duplication probably underlies the pathogenesis of SHFM in this pedigree. Tiny copy number variations can result in diseases featuring autosomal dominant inheritance.
目的
检测一个患并指/并趾畸形（SHFM）的中国家系中的潜在突变。
方法
采用单核苷酸多态性（SNP）微阵列对患者进行全基因组拷贝数变异筛查。通过实时荧光定量PCR验证拷贝数变异。
结果
三代中有3例SHFM患者，符合常染色体显性遗传。SNP微阵列分析显示，所有患者在10q24.31-q24.32（102 993 649-103 333 271）区域携带一个0.34 Mb的重复，该区域包含BTRC和DPCD基因。实时荧光定量PCR验证了该结果，证实该重复在家系中与SHFM表型共分离。
结论
10q24.31-q24.32重复可能是该家系中SHFM发病机制的基础。微小的拷贝数变异可导致常染色体显性遗传疾病。
Zotero 插件