Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy

Pediatric Blood and Cancer

Volumn 61, Issue 12, 2014, Pages 2302-2304

  Sharma, Akshay ^a   Myers, Kasiani ^b   Ye, Zhan ^a   D'Orazio, John ^a  

^a UNIVERSITY OF KENTUCKY   (United States)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Bone marrow failure; Dyskeratosis congenita; Retinopathy; Telomerase

Indexed keywords

TELOMERASE; TERT PROTEIN, HUMAN;

ADULT; CASE REPORT; CHILD; COMPLICATION; DYSKERATOSIS CONGENITA; FEMALE; FOLLOW UP; GENETICS; HUMAN; MALE; PANCYTOPENIA; POINT MUTATION; PROGNOSIS; RETINA DISEASE; SIBLING;

ADULT; CHILD; DYSKERATOSIS CONGENITA; FEMALE; FOLLOW-UP STUDIES; HUMANS; MALE; PANCYTOPENIA; POINT MUTATION; PROGNOSIS; RETINAL DISEASES; SIBLINGS; TELOMERASE;

EID: 84911491077     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.25161     Document Type: Article

References (20)

1. Savage SA, Alter BP. Dyskeratosis congenita. Hematol Oncol Clin North Am 2009; 23:215-231.
2. Mason PJ, Bessler M. The genetics of dyskeratosis congenita. Cancer Genet 2011; 204:635-645.
3. Kirwan M, Dokal I. Dyskeratosis congenita: A genetic disorder of many faces. Clin Genet 2008; 73:103-112.
4. Revesz T, Fletcher S, al-Gazali LI, et al. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: A new syndrome? J Med Genet 1992; 29:673-675.
5. Alter BP, Baerlocher GM, Savage SA, et al. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood 2007; 110:1439-1447.
6. Vulliamy TJ, Walne A, Baskaradas A, et al. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis 2005; 34:257-263.
7. Kong CM, Lee XW, Wang X. Telomere shortening in human diseases. FEBS J 2013; 280:3180-3193.
8. Calado RT. Telomeres and marrow failure. Hematology Am Soc Hematol Educ Program 2009; 338-343. doi: 10.1182/asheducation-2009.1.338 Review. PMID: 20008219 [PubMed - indexed for MEDLINE]
9. Gramatges MM, Bertuch AA. Short telomeres: From dyskeratosis congenita to sporadic aplastic anemia and malignancy. Transl Res 2013; 162:353-363.
10. Armanios M, Chen JL, Chang YP, et al. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci USA 2005; 102:15960-15964.
11. Goldman F, Bouarich R, Kulkarni S, et al. The effect of TERC haploinsufficiency on the inheritance of telomere length. Proc Natl Acad Sci USA 2005; 102:17119-17124.
12. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7:248-249.
13. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4:1073-1081.
14. Vulliamy T, Marrone A, Szydlo R, et al. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet 2004; 36:447-449.
15. Kajtar P, Mehes K. Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs. Am J Med Genet 1994; 49:374-377.
16. Gayatri NA, Hughes MI, Lloyd IC, et al. Association of the congenital bone marrow failure syndromes with retinopathy, intracerebral calcification and progressive neurological impairment. Eur J Paediatr Neurol 2002; 6:125-128.
17. Tsilou ET, Giri N, Weinstein S, et al. Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita. Ophthalmology 2010; 117:615-622.
18. Vaz-Pereira S, Pacheco PA, Gandhi S, et al. Bilateral retinal vasculopathy associated with autosomal dominant dyskeratosis congenita. Eur J Ophthalmol 2013; 23:772-775.
19. Savage SA, Giri N, Baerlocher GM, et al. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet 2008; 82:501-509.
20. Baerlocher GM, Vulto I, de Jong G, et al. Flow cytometry and FISH to measure the average length of telomeres (flow FISH). Nat Protoc 2006; 1:2365-2376.