Dyskeratosis Congenita Autosomal Dominant

Common Name(s)

Dyskeratosis Congenita Autosomal Dominant

Dyskeratosis congenita is a rare multisystem disorder caused by defective telomere maintenance. Clinical features are highly variable and include bone marrow failure, predisposition to malignancy, and pulmonary and hepatic fibrosis. The classic clinical triad of abnormal skin pigmentation, leukoplakia, and nail dystrophy is not always observed. Other features include premature graying of the hair, osteoporosis, epiphora, dental abnormalities and testicular atrophy, among others (review by {3:Bessler et al., 2007} and {4:Bessler et al., 2010}). Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood (summary by {16:Walne et al., 2013}). Genetic Heterogeneity of Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome Dyskeratosis congenita is a genetically heterogeneous disorder, showing autosomal recessive, autosomal dominant, and X-linked inheritance. Additional autosomal dominant forms include DKCA2 ({613989}), caused by mutation in the TERT gene ({187270}) on chromosome 5p1; DKCA3 ({613990}), caused by mutation in the TINF2 gene ({604319}) on chromosome 14q12; DKCA4 (see {615190}), caused by mutation in the RTEL1 gene ({608833}) on chromosome 20q13, and DKCA5 ({268130}), caused by mutation in the TINF2 gene ({604319}) on chromosome 14q12. Autosomal recessive forms include DKCB1 ({224230}), caused by mutation in the NOLA3 gene ({606471}) on chromosome 15q14-q15; DKCB2 ({613987}), caused mutation in the NOLA2 gene ({606470}) on chromosome 5q35; DKCB3 ({613988}), caused by mutation in the TCAB1 gene (WRAP53; {612661}) on chromosome 17p13; DKCB4 (see {613989}), caused by mutation in the TERT gene; and DKCB5 ({615190}), caused by mutation in the RTEL1 gene ({608833}) on chromosome 20q13. X-linked recessive DKCX ({305000}) is caused by mutation in the dyskerin gene (DKC1; {300126}) on Xq28. Hoyeraal-Hreidarsson syndrome, the severe clinical variant of DKC, can be caused by mutation in several different DKC-associated genes; see, e.g., DKC1 ({300136}), TINF2 ({604319}), TERT ({187270}), and RTEL1 ({608833}). See also adult-onset telomere-related pulmonary fibrosis and/or bone marrow failure-1 and -2 (PFBMFT1, {614742} and PFBMFT2, {614743}), which are caused by mutations in the TERT and TERC genes, respectively. These disorders share some features of DKC, but show later onset and do not have skin abnormalities. The disorders related to telomere shortening are part of a phenotypic spectrum. Mutation in the CTC1 gene ({613129}) on chromosome 17p13 causes cerebroretinal microangiopathy with calcifications and cysts (CRMCC; {612199}), another telomere-related disorder with overlapping features of DKC.
 

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Condition Specific Organizations

Following organizations serve the condition "Dyskeratosis Congenita Autosomal Dominant" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Dyskeratosis Congenita Autosomal Dominant" returned 3 free, full-text research articles on human participants. First 3 results:

Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations.
 

Author(s): Lina Basel-Vanagaite, Inderjeet Dokal, Hannah Tamary, Abraham Avigdor, Ben Zion Garty, Alexander Volkov, Tom Vulliamy

Journal: Haematologica. 2008 Jun;93(6):943-4.

 

Last Updated: 2 Jun 2008

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Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.
 

Author(s): Mary Armanios, Jiunn-Liang Chen, Yen-Pei Christy Chang, Robert A Brodsky, Anita Hawkins, Constance A Griffin, James R Eshleman, Alan R Cohen, Aravinda Chakravarti, Ada Hamosh, Carol W Greider

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2005 Nov;102(44):15960-4.

 

Dyskeratosis congenita is a rare inherited disorder characterized by abnormal skin manifestations. Morbidity and mortality from this disease is usually due to bone marrow failure, but idiopathic pulmonary fibrosis and an increased cancer predisposition also occur. Families with autosomal ...

Last Updated: 2 Nov 2005

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

Author(s): Matt Knudson, Shashikant Kulkarni, Zuhair K Ballas, Monica Bessler, Frederick Goldman

Journal: Blood. 2005 Jan;105(2):682-8.

 

Dyskeratosis congenita (DC) is an inherited bone marrow failure disorder characterized by abnormal skin pigmentation and nail dystrophy. We have recently described, in 10 members of a large 3-generation family, an autosomal-dominant form of DC (AD DC) that is due to a mutation in ...

Last Updated: 5 Jan 2005

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Reviews from the PubMed Database

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The terms "Dyskeratosis Congenita Autosomal Dominant" returned 0 free, full-text review articles on human participants.

 
 
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