+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita

DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita

Kaohsiung Journal of Medical Sciences 18(11): 573-577

Dyskeratosis congenita (DKC) is a rare inherited disease characterized by the triad of abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. Recent studies demonstrated mutations in the DKC1 gene encoding a protein named dyskerin, which is a component of human telomerase. In addition to the hypothesized function of pseudouridination in rRNA biosynthesis, ribosomal subunit assembly, and/or centromere/ microtubule binding, lower levels of telomerase activity in cells from patients with X-linked DKC have been observed. We report the mutation analysis of a Taiwanese family with X-linked DKC. The patient was a 19-year-old man who presented with progressive reticulate hyperpigmentation, nail dystrophy, alopecia, leukoplakia of the tongue, and pancytopenia. He died of enterocolitis and Escherichia coli sepsis at the age of 20 years. Only his mother's DNA was available for mutation analysis, which revealed a nucleotide transition of C to T (1058 C --> T), a hotspot mutation in DKC, resulting in an amino acid change from alanine to valine (A353V) in the DKC1 gene. Recent advances in the research of telomerase and its implications in the human aging process and cancer are discussed.

Please choose payment method:

(PDF emailed within 1 workday: $29.90)

Accession: 045699747

Download citation: RISBibTeXText

PMID: 12513020

Related references

A novel missense mutation in the DKC1 gene in a Japanese family with X-linked dyskeratosis congenita. Pediatric Hematology and Oncology 19(6): 413-419, 2002

A novel mutation in DKC1 gene in a patient with dyskeratosis congenita. Zhonghua Pifuke Zazhi 39(6): 305-307, 2006

Dyskeratosis congenita--two siblings with a new missense mutation in the DKC1 gene. Pediatric Dermatology 28(4): 464-466, 2011

Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita. British Journal of Haematology 129(3): 432-434, 2005

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. American Journal of Human Genetics 65(1): 50-58, 1999

Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice. Oncogene 21(50): 7740-7744, 31 October, 2002

A novel DKC1 gene mutation c.1177 A>T (p.I393F) in a case of dyskeratosis congenita with severe telomere shortening. International Journal of Dermatology 58(12): 1468-1471, 2019

Deletions in Dkc1, the Gene Mutated in X-Linked Dyskeratosis Congenita, Cause Embryonic Lethality in Mice, but Permit Cell Survival in Adult Tissues. Blood 100(11): Abstract No 2591, 2002

Identification of a novel mutation in DKC1 in dyskeratosis congenita. Pediatric Blood and Cancer 52(1): 135-137, 2009

Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita. Journal of Investigative Dermatology 123(3): 470-473, 2004

A Novel Missense Mutation of DKC1 In Dyskeratosis Congenita With Pulmonary Fibrosis. Sarcoidosis Vasculitis and Diffuse Lung Diseases 30(3): 221-225, 2013

A recurrent p. A353V mutation in DKC1 responsible for different phenotypes of dyskeratosis congenita in a Chinese family. Journal of Dermatological Science 63(2): 122-124, 2011

Clinical heterogeneity in a family with DKC1 mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins. Pediatric Reports 9(3): 7301, 2017

An atypical form of dyskeratosis congenita with renal agenesis and no mutation in DKC1, TERC and TERT genes. Journal of the European Academy of Dermatology and Venereology 23(5): 607-608, 2009

Novel missense mutations in the DKC1 gene in patients with dyskeratosis congenita. American Journal of Human Genetics 65(4): A488, 1999