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Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita
- Source :
- Case Reports in Dermatology, Vol 7, Iss 2, Pp 212-219 (2015)
- Publication Year :
- 2015
- Publisher :
- Karger Publishers, 2015.
-
Abstract
- 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.
- Subjects :
- Dyskeratosis congenita
TINF2
Mutation
Direct sequencing
Dermatology
RL1-803
Subjects
Details
- Language :
- English
- ISSN :
- 16626567
- Volume :
- 7
- Issue :
- 2
- Database :
- Directory of Open Access Journals
- Journal :
- Case Reports in Dermatology
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.33a79c121c9a4e238fa689e3819f89d2
- Document Type :
- article
- Full Text :
- https://doi.org/10.1159/000439042