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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If a male is the only affected family member i. DKC1 comprises 15 exons and spans a genomic region of 15, base pairs. Am J Diqueratosis Genet. Treatment of pulmonary fibrosis is primarily supportive, although lung transplantation may be considered.

Dyskeratosis congenita

Deafness has been reported but is rare. RTEL1 pathogenic variants reported include missense variants, frameshift-causing deletions, and stop codons.

Androgens and growth factors. Adrenocortical dysplasia protein homolog. The relevant nature of dyskerin throughout most species is to catalyze the post-transcriptional pseudouridylation of specific uridines found in non-coding RNAs, such as ribosomal RNA rRNA. Prognosis Life expectancy ranges from infancy to well into the 7th decade.

Using a disqkeratosis gene approach with evidence for linkage to chromosome 14q Dyskeratosis congenita, autosomal recessive 3. CCCC ]. BMF management and treatment currently follows the Fanconi anemia consensus guidelines. Clinical Synopsis Toggle Dropdown. A proband with autosomal dominant DC may have the disorder as the result of a de novo DC-related pathogenic variant.


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. DBA is associated with an increased risk of acute myelogenous leukemia, myelodysplastic syndrome, and solid tumors including osteogenic sarcoma.

Low-intensity hematopoietic stem-cell transplantation across human leucocyte antigen barriers in dyskeratosis congenita. This has only congenlta observed in individuals with germline TERC pathogenic variants.


Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. The remaining 12 mutations congenuta all in a tight cluster between residues and If a matched-related donor is available, hematopoietic cell transplantation HCT should be the first consideration for treatment for hematologic problems such as BMF or leukemia regardless of age.

Variations from this GeneReview in ClinVar. Most solid tumors develop after the first decade median age of onset: It can be more pronounced in persons with the Hoyeraal Hreidarsson syndrome or Revesz syndrome variants.


MedGen Related information in MedGen. In addition, microcephaly has been reported in some persons with DC. It is appropriate to offer genetic counseling including discussion of potential risks to offspring and reproductive options to young adults who are affectedare carriers, or are at risk of being carriers.

For all other comments, please send your remarks via contact us. Ataxia telangiectasia Disqueratoxis breakage syndrome. The diagnosis of DC is established in a proband with identification of a pathogenic variant or variants by molecular genetic testing in one of the genes listed in Congenitq 1A or 1B. Cbf5, the yeast analog of human dyskerin, is indeed known to be associated with the processing and maturation of rRNA.


Males who inherit the pathogenic variant will be affected ; females who inherit the variant convenita be heterozygotes carriers and will usually not be affected. Are you a health professional able to prescribe or dispense drugs? See Molecular Genetics for information on allelic variants detected in this gene.

Suggested studies to consider include:.