Autosomal dominant dyskeratosis congenita

MedGen UID:: 338831
•Concept ID:: C1851970
•: Disease or Syndrome

Synonyms:	Dyskeratosis Congenita, Autosomal Dominant; Dyskeratosis Congenita, Scoggins Type
SNOMED CT:	Autosomal dominant dyskeratosis congenita (707273001)

Recent clinical studies

Etiology

The genetics and clinical manifestations of telomere biology disorders.

Savage SA, Bertuch AA
Genet Med 2010 Dec;12(12):753-64. doi: 10.1097/GIM.0b013e3181f415b5. PMID: 21189492 Free PMC Article

Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome.

Du HY, Idol R, Robledo S, Ivanovich J, An P, Londono-Vallejo A, Wilson DB, Mason PJ, Bessler M
Aging Cell 2007 Oct;6(5):689-97. doi: 10.1111/j.1474-9726.2007.00324.x. PMID: 17875000 Free PMC Article

Telomerase mutations in families with idiopathic pulmonary fibrosis.

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
N Engl J Med 2007 Mar 29;356(13):1317-26. doi: 10.1056/NEJMoa066157. PMID: 17392301

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Diagnosis

Bilateral retinal vasculopathy associated with autosomal dominant dyskeratosis congenita.

Vaz-Pereira S, Pacheco PA, Gandhi S, Kulasekararaj AG, Marsh JC, Pal B, Mufti GJ
Eur J Ophthalmol 2013 Sep-Oct;23(5):772-5. Epub 2013 May 3 doi: 10.5301/ejo.5000297. PMID: 23661544

Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita.

Johnson CA, Hatfield M, Pulido JS
Ophthalmic Genet 2009 Dec;30(4):181-4. doi: 10.3109/13816810903148012. PMID: 19852575

Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome.

Field JJ, Mason PJ, An P, Kasai Y, McLellan M, Jaeger S, Barnes YJ, King AA, Bessler M, Wilson DB
J Pediatr Hematol Oncol 2006 Jul;28(7):450-3. doi: 10.1097/01.mph.0000212952.58597.84. PMID: 16825992

Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.

Vulliamy T, Marrone A, Szydlo R, Walne A, Mason PJ, Dokal I
Nat Genet 2004 May;36(5):447-9. Epub 2004 Apr 18 doi: 10.1038/ng1346. PMID: 15098033

Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome.

Yamaguchi H, Baerlocher GM, Lansdorp PM, Chanock SJ, Nunez O, Sloand E, Young NS
Blood 2003 Aug 1;102(3):916-8. Epub 2003 Apr 3 doi: 10.1182/blood-2003-01-0335. PMID: 12676774

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Prognosis

The impact of dyskeratosis congenita mutations on the structure and dynamics of the human telomerase RNA pseudoknot domain.

Yingling YG, Shapiro BA
J Biomol Struct Dyn 2007 Feb;24(4):303-20. doi: 10.1080/07391102.2007.10531238. PMID: 17206847

See all (1)

Clinical prediction guides

Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita.

Johnson CA, Hatfield M, Pulido JS
Ophthalmic Genet 2009 Dec;30(4):181-4. doi: 10.3109/13816810903148012. PMID: 19852575

Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations.

Marrone A, Sokhal P, Walne A, Beswick R, Kirwan M, Killick S, Williams M, Marsh J, Vulliamy T, Dokal I
Haematologica 2007 Aug;92(8):1013-20. Epub 2007 Jul 20 doi: 10.3324/haematol.11407. PMID: 17640862 Free PMC Article

The impact of dyskeratosis congenita mutations on the structure and dynamics of the human telomerase RNA pseudoknot domain.

Yingling YG, Shapiro BA
J Biomol Struct Dyn 2007 Feb;24(4):303-20. doi: 10.1080/07391102.2007.10531238. PMID: 17206847

Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita.

Knudson M, Kulkarni S, Ballas ZK, Bessler M, Goldman F
Blood 2005 Jan 15;105(2):682-8. Epub 2004 Jul 6 doi: 10.1182/blood-2004-04-1673. PMID: 15238429

YNMG tetraloop formation by a dyskeratosis congenita mutation in human telomerase RNA.

Theimer CA, Finger LD, Feigon J
RNA 2003 Dec;9(12):1446-55. doi: 10.1261/rna.5152303. PMID: 14624001 Free PMC Article

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Autosomal dominant dyskeratosis congenita

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

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