Abstract | BACKGROUND: METHODS: RESULTS: Six probands (8%) had heterozygous mutations in hTERT or hTR; mutant telomerase resulted in short telomeres. Asymptomatic subjects with mutant telomerase also had short telomeres, suggesting that they may be at risk for the disease. We did not identify any of the classic features of dyskeratosis congenita in five of the six families. CONCLUSIONS:
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Authors | Mary Y Armanios, Julian J-L Chen, Joy D Cogan, Jonathan K Alder, Roxann G Ingersoll, Cheryl Markin, William E Lawson, Mingyi Xie, Irma Vulto, John A Phillips 3rd, Peter M Lansdorp, Carol W Greider, James E Loyd |
Journal | The New England journal of medicine
(N Engl J Med)
Vol. 356
Issue 13
Pg. 1317-26
(Mar 29 2007)
ISSN: 1533-4406 [Electronic] United States |
PMID | 17392301
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Copyright | Copyright 2007 Massachusetts Medical Society. |
Chemical References |
- telomerase RNA
- RNA
- Telomerase
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Topics |
- Female
- Genes, Dominant
- Heterozygote
- Humans
- Male
- Mutation
- Mutation, Missense
- Pedigree
- Pulmonary Fibrosis
(diagnostic imaging, genetics)
- RNA
(genetics)
- Radiography
- Reverse Transcriptase Polymerase Chain Reaction
- Telomerase
(genetics, metabolism)
- Telomere
(enzymology, genetics, pathology)
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