Publication: Novel mutation of the TINF2 gene in a patient with dyskeratosis congenita
Issued Date
2015-01-01
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ISSN
16626567
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2-s2.0-84941958119
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Mahidol University
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SCOPUS
Bibliographic Citation
Case Reports in Dermatology. Vol.7, (2015), 212-219
Suggested Citation
Benjaporn Panichareon, Thanawat Seedapan, Wanna Thongnoppakhun, Chanin Limwongse, Manop Pithukpakorn, Thawornchai Limjindaporn Novel mutation of the TINF2 gene in a patient with dyskeratosis congenita. Case Reports in Dermatology. Vol.7, (2015), 212-219. doi:10.1159/000439042 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/36641
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Title
Novel mutation of the TINF2 gene in a patient with dyskeratosis congenita
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Abstract
© 2015 S. Karger AG, Basel. 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.