Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene

Human Mutation

Volumn 34, Issue 11, 2013, Pages 1481-1485

  Alder, Jonathan K ^a   Parry, Erin M ^a   Yegnasubramanian, Srinivasan ^a   Wagner, Christa L ^a   Lieblich, Lawrence M ^b   Auerbach, Robert ^c   Auerbach, Arleen D ^d   Wheelan, Sarah J ^a   Armanios, Mary ^a,e  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b STONY BROOK UNIVERSITY   (United States)

^c NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d ROCKEFELLER UNIVERSITY   (United States)

^e JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

DKC1; Dyskeratosis congenita; Myelodysplastic syndrome; Pulmonary fibrosis; Telomerase

Indexed keywords

GENOMIC DNA; HOLOENZYME; PHYTOHEMAGGLUTININ; RNA; TELOMERASE;

ANOSMIA; APLASTIC ANEMIA; ARTICLE; BONE MARROW DEPRESSION; CHROMOSOMAL INSTABILITY; CLINICAL ARTICLE; CLINICAL FEATURE; DYSKERATOSIS CONGENITA; DYSKERATOSIS CONGENITA 1 GENE; EXOME; EXON; FAMILY HISTORY; FANCONI ANEMIA; FEMALE; FIBROSING ALVEOLITIS; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GENOMIC INSTABILITY; GENOTYPE; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HYPERPIGMENTATION; LUNG FIBROSIS; MALE; MISSENSE MUTATION; MORBIDITY; MYELODYSPLASTIC SYNDROME; NAIL DYSTROPHY; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; SISTER CHROMATID EXCHANGE; SKIN CANCER; SKIN MANIFESTATION; TELOMERE; THROMBOCYTOPENIA; WOUND DEHISCENCE; WOUND HEALING IMPAIRMENT; X CHROMOSOME; X CHROMOSOME INACTIVATION;

DKC1; DYSKERATOSIS CONGENITA; MYELODYSPLASTIC SYNDROME; PULMONARY FIBROSIS; TELOMERASE;

AMINO ACID SEQUENCE; CELL CYCLE PROTEINS; DYSKERATOSIS CONGENITA; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; SEQUENCE ALIGNMENT; TELOMERE;

EID: 84885426952     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22397     Document Type: Article

References (28)

1. Alder JK, Cogan JD, Brown AF, Anderson CJ, Lawson WE, Lansdorp PM, Phillips JA 3rd, Loyd JE, Chen JJ, Armanios M. 2011a. Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis. PLoS Genet 7:e1001352.
2. Alder JK, Guo N, Kembou F, Parry EM, Anderson CJ, Gorgy AI, Walsh MF, Sussan T, Biswal S, Mitzner W, Tuder RM, Armanios M. 2011b. Telomere length is a determinant of emphysema susceptibility. Am J Respir Crit Care Med 184:904-912.
3. Armanios M. 2009. Syndromes of telomere shortening. Annu Rev Genomics Hum Genet 10:45-61.
4. Armanios M, Alder JK, Parry EM, Karim B, Strong MA, Greider CW. 2009. Short telomeres are sufficient to cause the degenerative defects associated with aging. Am J Hum Genet 85:823-832.
5. Armanios M, Blackburn EH. 2012. The telomere syndromes. Nat Rev Genet 13:693-704.
6. Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, Eshleman JR, Cohen AR, Chakravarti A, Hamosh A, Greider CW. 2005. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci USA 102:15960-15964.
7. Armanios MY, Chen JJ, Cogan JD, Alder JK, Ingersoll RG, Markin C, Lawson WE, Xie M, Vulto I, Phillips JA 3rd, Lansdorp PM, Greider CW, Loyd JE. 2007. Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med 356:1317-1326.
8. Auerbach AD. 2009. Fanconi anemia and its diagnosis. Mutat Res 668:4-10.
9. Auerbach AD, Lieblich LM, Ehrenbard L, Auerbach R, Chaganti RSK. 1979. Dyskeratosis congenita: cytogenetic studies in a family with an unusual pattern of inheritance. Am J Hum Genet 31:87A.
10. Ballew BJ, Yeager M, Jacobs K, Giri N, Boland J, Burdett L, Alter BP, Savage SA. 2013. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. Hum Genet 132:473-480.
11. Basel-Vanagaite L, Dokal I, Tamary H, Avigdor A, Garty BZ, Volkov A, Vulliamy T. 2008. Expanding the clinical phenotype of autosomal dominant Dyskeratosis congenita caused by TERT mutations. Haematologica 93:943-944.
12. Devriendt K, Matthijs G, Legius E, Schollen E, Blockmans D, van Geet C, Degreef H, Cassiman JJ, Fryns JP. 1997. Skewed X-chromosome inactivation in female carriers of Dyskeratosis congenita. Am J Hum Genet 60:581-587.
13. Diaz de Leon A, Cronkhite JT, Yilmaz C, Brewington C, Wang R, Xing C, Hsia CC, Garcia CK. 2011. Subclinical lung disease, macrocytosis, and premature graying in kindreds with telomerase (TERT) mutations. Chest 140:753-763.
14. Ding YG, Zhu TS, Jiang W, Yang Y, Bu DF, Tu P, Zhu XJ, Wang BX. 2004. Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita. J Invest Dermatol 123:470-473.
15. Dokal I. 2000. Dyskeratosis congenita in all its forms. Br J Haematol 110:768-779.
16. Hao LY, Armanios M, Strong MA, Karim B, Feldser DM, Huso D, Greider CW. 2005. Short telomeres, even in the presence of telomerase, limit tissue renewal capacity. Cell 123:1121-1131.
17. Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I. 1998. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 19:32-38.
18. Jaskelioff M, Muller FL, Paik JH, Thomas E, Jiang S, Adams AC, Sahin E, Kost-Alimova M, Protopopov A, Cadinanos J, Cadiñanos J, Horner JW, Maratos-Flier E, DePinho RA. 2011. Telomerase reactivation reverses tissue degeneration in aged telomerase-deficient mice. Nature 469:102-106.
19. Jonassaint NL, Guo N, Califano JA, Montgomery EA, Armanios M. 2013. The gastrointestinal manifestations of telomere-mediated disease. Aging Cell 12:319-323.
20. Knight SW, Heiss NS, Vulliamy TJ, Aalfs CM, McMahon C, Richmond P, Jones A, Hennekam RC, Poustka A, Mason PJ, Dokal I. 1999. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br J Haematol 107:335-339.
21. Knight S, Vulliamy T, Copplestone A, Gluckman E, Mason P, Dokal I. 1998. Dyskeratosis Congenita (DC) Registry: identification of new features of DC. Br J Haematol 103:990-996.
22. Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, Carpentier W, Nitschke P, Picard C, Couillault G, Soulier J, Fischer A, et al. 2013. Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. Hum Mol Genet 22:3239-3249.
23. Mitchell JR, Wood E, Collins K. 1999. A telomerase component is defective in the human disease dyskeratosis congenita. Nature 402:551-555.
24. Parry EM, Alder JK, Lee SS, Phillips JA 3rd, Loyd JE, Duggal P, Armanios M. 2011a. Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita. J Med Genet 48:327-333.
25. Parry EM, Alder JK, Qi X, Chen JJ, Armanios M. 2011b. Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. Blood 117:5607-5611.
26. Vulliamy TJ, Knight SW, Dokal I, Mason PJ. 1997. Skewed X-inactivation in carriers of X-linked dyskeratosis congenita. Blood 90:2213-2216.
27. Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I. 2001. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 413:432-435.
28. Walne AJ, Vulliamy T, Kirwan M, Plagnol V, Dokal I. 2013. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am J Hum Genet 92:448-453.