CAJ | 학술논문

目的对2例先天性角化不良症(DC)患儿进行临床和基因分析.方法 2例患儿均表现为皮肤黏膜异常三联征(指/趾甲营养不良、黏膜白斑病、皮肤网状色素沉着)和骨髓衰竭.临床诊断为DC.提取患儿外周血DNA,PCR扩增DC的6个热点基因,包括DKC1、TERT、TERC、TINF2、NOP10、NHP2,进行DNA测序和基因分析.结果 2例患儿标本均克隆出TINF2基因中第6号外显子的c.845G→A(R282H)突变.结论低龄患儿出现典型皮肤黏膜改变、骨髓衰竭时,应考虑到DC可能.早期行相关基因检测可避免误诊、漏诊.2例TINF2基因c.845G→A(R282H)突变为国内首次报道.
목적 대2례선천성각화불량증(DC)환인진행림상화기인분석.방법 2례환인균표현위피부점막이상삼련정(지/지갑영양불량、점막백반병、피부망상색소침착)화골수쇠갈.림상진단위DC.제취환인외주혈DNA,PCR확증DC적6개열점기인,포괄DKC1、TERT、TERC、TINF2、NOP10、NHP2,진행DNA측서화기인분석.결과 2례환인표본균극륭출TINF2기인중제6호외현자적c.845G→A(R282H)돌변.결론 저령환인출현전형피부점막개변、골수쇠갈시,응고필도DC가능.조기행상관기인검측가피면오진、루진.2례TINF2기인c.845G→A(R282H)돌변위국내수차보도.
Objective To analysis the clinic and genotype in two Chinese patients with Dyskeratosis congenita(DC).Methods 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.Results 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.Conclusion 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.