先天性角化不良患者中TINF2基因的新型突变
Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita.
作者信息
Panichareon Benjaporn, Seedapan Thanawat, Thongnoppakhun Wanna, Limwongse Chanin, Pithukpakorn Manop, Limjindaporn Thawornchai
机构信息
Department of Anatomy, Department of Research and Development, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Division of Molecular Genetics, Department of Research and Development, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
出版信息
Case Rep Dermatol. 2015 Aug 12;7(2):212-9. doi: 10.1159/000439042. eCollection 2015 May-Aug.
Dyskeratosis congenita (DKC) is a rare inherited disease that is characterized by abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. DKC is caused by an abnormality in a component of the telomerase and shelterin complexes. TINF2 encodes a protein in the shelterin complex and TERC encodes a component of the telomerase complex. Mutations of both genes have been associated with DKC. This study examined mutations in TINF2.
先天性角化不良（DKC）是一种罕见的遗传性疾病，其特征为皮肤色素沉着异常、指甲营养不良和黏膜白斑。DKC由端粒酶和端粒保护蛋白复合体的一个成分异常所致。TINF2编码端粒保护蛋白复合体中的一种蛋白质，TERC编码端粒酶复合体的一个成分。这两个基因的突变均与DKC相关。本研究检测了TINF2中的突变。
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