Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal. Request PDF on ResearchGate | Disqueratosis congénita | Este artículo debe citarse como: Nazar-Díaz-Mirón D, Navarrete-Fran-co G. The diagnosis of dyskeratosis congenita was made only after an evolution of five years. The diagnosis of dyskeratosis congenita–although it is a rare disease– should be considered in every child first seen with . Disqueratosis congénita.

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Genes and Databases for chromosome locus and protein.

Clinical description DC has a wide phenotypic spectrum disqueartosis age onset. Keratoderma with nail dystrophy and motor-sensory neuropathy OMIM Age at onset ranged from 10 to 31 years, and common clinical features included leukoplakia, nail dystrophy, and lacey reticular skin pigmentation. Dyskeratosis congenita, autosomal recessive 2.

Studies of the effectiveness of danazol, a modified testosterone, are under way in DC and the related telomere biology disorders.


In three of the cases, the specific amino acids affected phenylalanineprolineglycine are found in the same locus in humans as they are in yeast S. Treatment of other cancers is tailored to the type of cancer.


Clinical utility gene card for: This has only been observed in individuals with germline TERC pathogenic variants. Telomerase mutations in families with idiopathic pulmonary fibrosis.

Dyskeratosis congenita

Pathogenic variants affecting a subset of these proteins have been implicated in telomere biology disorders. Mutations in Nop10, [7] Nhp2 [11] and dyskerin1 [8] have all been shown to lead to DKC-like symptoms. Dental caries and periodontal disease had been reported to occur at early ages and at higher rates than in the general population; however, they may currently be less frequent because of improved dental hygiene.

Si continua navegando, consideramos que acepta su uso. Telomerase Cajal body protein 1. At age 10 years, she had progressive interstitial lung disease with fibrosis, gastrointestinal bleeding secondary to enteropathy, and noncirrhotic portal hypertension.

TERT comprises 16 exons. Unsourced material may be challenged and removed. The relevant nature of dyskerin throughout most species is to catalyze the post-transcriptional pseudouridylation of specific uridines disqueratosiw in non-coding RNAs, such as ribosomal RNA rRNA. Please help improve this section by adding citations to reliable sources. We are determined to keep this website freely accessible.


This was in contrast to RH Evaluation may include complete blood count and bone marrow aspiration and biopsy. Laboratory studies showed shortened telomeres and decreased telomerase activity Nine of 57 patients with bone marrow failure and some features of DKC were found to carry congentia, including 2 with RH, and 4 with nonsense or frameshift mutations see, e.


The proportion of cases caused by a de novo pathogenic variant is unknown. The spectrum ranges from individuals who develop bone marrow failure BMF first, and then years later develop other classic findings such as nail abnormalities, to others who have severe nail problems and abnormalities of skin pigmentation but normal bone marrow function.

Of these 33 samples, 21 were found to have a mutation in arg in exon 6 see, e. Turn recording back on.

CTC1 pathogenic variants reported include missense variants congenitw frameshift-causing deletions. The USB1 gene 16q13 is also involved but it is not known to be related to telomere biology.

Although most persons with DC have normal psychomotor development and normal neurologic function, significant developmental delay is present in the Hoyeraal Hreidarsson syndrome and Revesz syndrome variants. Dyskeratosis congenital is inherited in an X-linked disqueratosi manner.

In many individuals the cause of acquired aplastic anemia is unknown.