Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland

272-->Arg) in one family suffering from the generalized simplex (Koebner) form of the disease has been previously described (Humphries et al., Hum Mutat 2:37-42, 1993). Here we report on the identification of mutations within the remaining two families, both of whom suffer from the Weber-Cockayne form of the disease. These mutations, within the type II keratin (K5) gene, are Asn-->193-->Lys and Met-->327-->Thr. They have been shown in each case to co-segregate with the disease and are not present in the normal population. Within the three families, a total of 44 living persons with such mutations have been identified, providing a minimum prevalence estimate for the disease in the Irish population of approximately 1 in 80,000, compared to an overall estimated global incidence at birth for all forms of EB of 1 in 50,000. Therefore, these three mutations probably account for the majority of cases of EBS within this population. -->
ISSN: 1098-1004
1059-7794
DOI: 10.1002/(sici)1098-1004(1996)8:1<57::aid-humu8>3.0.co;2-m
Přístupová URL adresa: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49eb877f647e9a356c1521c40f3653bf
https://doi.org/10.1002/(sici)1098-1004(1996)8:1<57::aid-humu8>3.0.co;2-m
Rights: CLOSED
Přírůstkové číslo: edsair.doi.dedup.....49eb877f647e9a356c1521c40f3653bf
Autor: Fiona C. Mansergh, Paul F. Kenna, S.A. Jordan, Marjorie M. Young, Peter Humphries, Marian M. Humphries, Anna-Sophie Kiang, Denise Sheils, G. Jane Farrar, Michael J. Martin
Rok vydání: 1996
Předmět:
Zdroj: Human Mutation. 8:57-63
ISSN: 1098-1004
1059-7794
DOI: 10.1002/(sici)1098-1004(1996)8:1<57::aid-humu8>3.0.co;2-m
Popis: We have located three extended families in Ireland (population 3.5 million) with autosomal dominant simplex forms of Epidermolysis Bullosa (EBS). A mutation within the keratin type I (K14) gene (Met-->272-->Arg) in one family suffering from the generalized simplex (Koebner) form of the disease has been previously described (Humphries et al., Hum Mutat 2:37-42, 1993). Here we report on the identification of mutations within the remaining two families, both of whom suffer from the Weber-Cockayne form of the disease. These mutations, within the type II keratin (K5) gene, are Asn-->193-->Lys and Met-->327-->Thr. They have been shown in each case to co-segregate with the disease and are not present in the normal population. Within the three families, a total of 44 living persons with such mutations have been identified, providing a minimum prevalence estimate for the disease in the Irish population of approximately 1 in 80,000, compared to an overall estimated global incidence at birth for all forms of EB of 1 in 50,000. Therefore, these three mutations probably account for the majority of cases of EBS within this population.
Databáze: OpenAIRE
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