Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome)
| ISSN: | 1432-1076 0340-6199 |
|---|---|
| DOI: | 10.1007/s00431-003-1317-5 |
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e44a4e3e742019e5c5bdd7193c8e1c7e https://doi.org/10.1007/s00431-003-1317-5 |
| Rights: | CLOSED |
| Přírůstkové číslo: | edsair.doi.dedup.....e44a4e3e742019e5c5bdd7193c8e1c7e |
| Autor: | Inderjeet Dokal, Tomy Vulliamy, Jean-François Segura, Didier Lacombe, Hubert Journel, Yves Sznajer, Jean-Pierre Cezard, Clarisse Baumann, Alain Verloes, Yves Perel, Michel Peuchmaur, Albert David, Pascale Blouin |
| Rok vydání: | 2003 |
| Předmět: |
Diarrhea
Male Pathology medicine.medical_specialty Microcephaly Hyperkeratosis Mutation Missense Cell Cycle Proteins Hoyeraal-Hreidarsson syndrome Dyskeratosis Congenita Dyskerin medicine Humans Missense mutation Esophageal Motility Disorders Intestinal Mucosa Cerebellar hypoplasia X chromosome business.industry Infant Newborn Nuclear Proteins Syndrome medicine.disease Pediatrics Perinatology and Child Health business Dyskeratosis congenita |
| Zdroj: | European Journal of Pediatrics. 162:863-867 |
| ISSN: | 1432-1076 0340-6199 |
| DOI: | 10.1007/s00431-003-1317-5 |
| Popis: | Hoyeraal-Hreidarsson syndrome represents a severe variant of dyskeratosis congenita (Zinsser-Cole-Engman syndrome). This X-linked recessive, progressive, multisystemic disorder reported so far in 12 pedigrees is characterised by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, mental retardation, progressive combined immune deficiency and aplastic anaemia. Mutations in the DKC1gene on Xq28 have been identified in the X-linked form of dyskeratosis congenita and in some Hoyeraal-Hreidarsson syndrome patients. We report on two sibs and two other unrelated patients with the striking clinical features of Hoyeraal-Hreidarsson syndrome. Noticeably, all four had early digestive problems, with chronic, bloody diarrhoea and feeding problems causing one of the most difficult problems in the supportive treatment of this uniformly lethal condition. Pathological changes in the proliferative compartment of the digestive mucosa included alterations of the glandular architecture and focal rarefaction of the glands. This aspect seems consistent with altered telomerase function associated with a dyskerin mutation which may decrease the proliferative capacity of digestive epithelial cells. A missense mutation 146 C-->T (Thr49Met) in the DKC1gene was found in two unrelated patients, whereas mutation screening was negative for one single case. The absence of mutations of the DKC1gene in patients with Hoyeraal-Hreidarsson syndrome emphasises the probable implication of one or more other loci. |
| Databáze: | OpenAIRE |
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