[一个患有切-东综合征家系的临床特征及基因突变分析]
[Analysis of clinical characteristics and genetic mutation in a pedigree affected with Chediak-Higashi syndrome].
作者信息
Zhao Jiangang, Wang Zhi, Zhang Liyu, Sun Hongli, Yang Ying
机构信息
Department of Neonatology, Xi'an Children's Hospital, Xi'an, Shaanxi 710002, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):188-192. doi: 10.3760/cma.j.issn.1003-9406.2018.02.009.
OBJECTIVE
To explore the genetic basis for a pedigree affected with Chediak-Higashi syndrome (CHS).
METHODS
Clinical data of two CHS patients from the pedigree was collected and analyzed. Targeted next generation sequencing and Sanger sequencing were conducted to detect potential mutation of the LYST gene.
RESULTS
Both patients presented immunodeficiency, oculocutaneous albinism, and acidophilic inclusion body on bone marrow and blood smears. A homozygous c.6077_6078insA (p.Tyr2026Terfs) mutation was detected in the LYST gene in both patients.
CONCLUSION
Genetic testing can play an important role in the diagnosis of CHS.
目的
探究一个患有切迪阿克-东综合征（CHS）家系的遗传基础。
方法
收集并分析该家系中两名CHS患者的临床资料。采用靶向二代测序和桑格测序检测LYST基因的潜在突变。
结果
两名患者均表现出免疫缺陷、眼皮肤白化病以及骨髓和血涂片上的嗜酸性包涵体。两名患者的LYST基因均检测到纯合的c.6077_6078insA（p.Tyr2026Terfs）突变。
结论
基因检测在CHS的诊断中可发挥重要作用。
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