Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita.
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.
Department of Anatomy, Department of Research and Development, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Benjaporn
B
Panichareon
Department of Anatomy, Department of Research and Development, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Thanawat
T
Seedapan
Division of Molecular Genetics, Department of Research and Development, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Wanna
W
Thongnoppakhun
Division of Molecular Genetics, Department of Research and Development, Siriraj Hospital, Mahidol University, Bangkok, Thailand ; Division of Medical Genetics, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Chanin
C
Limwongse
Division of Molecular Genetics, Department of Research and Development, Siriraj Hospital, Mahidol University, Bangkok, Thailand ; Division of Medical Genetics, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Manop
M
Pithukpakorn
Department of Anatomy, Department of Research and Development, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Thawornchai
T
Limjindaporn
Direct sequencing; Dyskeratosis congenita; TINF2 · Mutation