Liu Rong, Shi Xiao-dong, Wang Tian-you, Liu Zi-qin, Hu Tao, Fan Wei, Cao Jing, Hou Ran, Liang Chao, Huang Shi-ang
Capital Institute of Pediatrics, Beijing, China.
Zhonghua Xue Ye Xue Za Zhi. 2011 Oct;32(10):684-7.
To analysis the clinic and genotype in two Chinese patients with Dyskeratosis congenita (DC).
The two patients were characterized by mucocutaneous abnormalities (abnormal nails, lacey reticular pigmentation, and oral leukoplakia), bone marrow failure. They were diagnosed with DC. DC genes were amplified by polymerase chain reaction (PCR), including DKC1, TERT, TERC, TINF2, NOP10, NHP2, then DNA sequencing was performed for abnormal exons.
An abnormal peak was found in exon 6 of TINF2 gene of the two patients. DNA sequencing showed a 845G→A transition in TINF2 gene in the two patients.
We should think about DC if the young patients with mucocutaneous abnormalities and marrow failure. TINF2 c.845G→A(R282H) does exist in the two patients. It is reported in China for the first time.
分析两名中国先天性角化不良（DC）患者的临床特征和基因型。
两名患者均有黏膜皮肤异常（指甲异常、花边状网状色素沉着和口腔白斑）及骨髓衰竭表现。他们被诊断为DC。通过聚合酶链反应（PCR）扩增DC相关基因，包括DKC1、TERT、TERC、TINF2、NOP10、NHP2，然后对异常外显子进行DNA测序。
两名患者的TINF2基因第6外显子出现异常峰。DNA测序显示两名患者的TINF2基因存在845G→A转换。
对于有黏膜皮肤异常和骨髓衰竭的年轻患者应考虑DC。两名患者中确实存在TINF2 c.845G→A（R282H），这在中国属首次报道。
