Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita

被引：5

作者：

Panichareon, Benjaporn ^{[1
]}

Seedapan, Thanawat ^{[1
]}

Thongnoppakhun, Wanna ^{[2
]}

Limwongse, Chanin ^{[2
,3
]}

Pithukpakorn, Manop ^{[2
,3
]}

Limjindaporn, Thawornchai ^{[1
]}

机构：

[1] Mahidol Univ, Siriraj Hosp, Fac Med, Dept Anat, Bangkok, Thailand

[2] Mahidol Univ, Siriraj Hosp, Fac Med, Div Mol Genet,Dept Res & Dev, Bangkok, Thailand

[3] Mahidol Univ, Siriraj Hosp, Fac Med, Div Med Genet,Dept Med, Bangkok, Thailand

来源：

CASE REPORTS IN DERMATOLOGY | 2015年 / 7卷 / 02期

关键词：

Dyskeratosis congenita; TINF2; Mutation; Direct sequencing;

D O I：

10.1159/000439042

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

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 and TERC by direct DNA sequencing in a Thai patient with DKC. We identified a novel mutation (c.845G>T) that is located in exon 6 of TINF2 and changes an arginine to leucine (Arg282Leu). This identified mutation could be applied for molecular genetic diagnosis and genetic counseling of patients with DKC. (C) 2015 S. Karger AG, Basel

引用

页码：212 / 219

页数：8

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