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 en...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
Karger Publishers,
2015-08-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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. |
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| Item Description: | 1662-6567 10.1159/000439042 |