caa a22 4500 467985146 CHVBK 20180323112529.0 cr unu---uuuuu 170328e19900801xx s 000 0 eng 10.1007/BF00206748 doi (NATIONALLICENCE)springer-10.1007/BF00206748 Somatic origin of inherited haemophilia A [Elektronische Daten] [Annette Bröcker-Vriends, Ernest Briët, Jos Dreesen, Bert Bakker, Pieter Reitsma, Hans Pannekoek, Jacques van de Kamp, Peter Pearson] Summary: We found a partial deletion of the clotting factor VIII gene of about 2000 bp, spanning exon 5 and part of intervening sequence 4 and 5 in an isolated patient with severe haemophilia A. The mother of the patient, who appeared to be a non-carrier on the basis of coagulation assays and restriction fragment length polymorphism analysis in the family, turned out to be a mosaic for the deletion, not only in her germ cells, but also in various somatic cells. These findings suggest that the mutation is the result of an event in early embryogenesis. If mosaicism for a mutation, either gonadal or somatic, proves to be a common phenomenon in human genetics, it is imperative to reconsider genetic risks for (future) sibs of any apparently new mutant of a hereditary disease. Springer-Verlag, 1990 Bröcker-Vriends Annette Department of Clinical Genetics, University Hospital Leiden, Rijnsburgerweg 10, NL-2333, AA Leiden, The Netherlands aut Briët Ernest Department of Haematologie, University Hospital Leiden, Rijnsburgerweg 10, NL-2333, AA Leiden, The Netherlands aut Dreesen Jos Department of Human Genetics, Sylvius Laboratoria, Wassenaarseweg 72, NL-2333, AL Leiden, The Netherlands aut Bakker Bert Department of Human Genetics, Sylvius Laboratoria, Wassenaarseweg 72, NL-2333, AL Leiden, The Netherlands aut Reitsma Pieter Department of Haematologie, University Hospital Leiden, Rijnsburgerweg 10, NL-2333, AA Leiden, The Netherlands aut Pannekoek Hans Department of Molecular Biology, Central Laboratory of the Netherlands Red Cross Blood Transfusion Service, Plesmanlaan 125, NL-1066, CX Amsterdam, The Netherlands aut van de Kamp Jacques Department of Clinical Genetics, University Hospital Leiden, Rijnsburgerweg 10, NL-2333, AA Leiden, The Netherlands aut Pearson Peter Department of Human Genetics, Sylvius Laboratoria, Wassenaarseweg 72, NL-2333, AL Leiden, The Netherlands aut Human Genetics Springer-Verlag 85/3(1990-08-01), 288-292 0340-6717 85:3<288 1990 85 439 https://doi.org/10.1007/BF00206748 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00206748 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Bröcker-Vriends Annette Department of Clinical Genetics, University Hospital Leiden, Rijnsburgerweg 10, NL-2333, AA Leiden, The Netherlands aut NATIONALLICENCE 700 1- Briët Ernest Department of Haematologie, University Hospital Leiden, Rijnsburgerweg 10, NL-2333, AA Leiden, The Netherlands aut NATIONALLICENCE 700 1- Dreesen Jos Department of Human Genetics, Sylvius Laboratoria, Wassenaarseweg 72, NL-2333, AL Leiden, The Netherlands aut NATIONALLICENCE 700 1- Bakker Bert Department of Human Genetics, Sylvius Laboratoria, Wassenaarseweg 72, NL-2333, AL Leiden, The Netherlands aut NATIONALLICENCE 700 1- Reitsma Pieter Department of Haematologie, University Hospital Leiden, Rijnsburgerweg 10, NL-2333, AA Leiden, The Netherlands aut NATIONALLICENCE 700 1- Pannekoek Hans Department of Molecular Biology, Central Laboratory of the Netherlands Red Cross Blood Transfusion Service, Plesmanlaan 125, NL-1066, CX Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- van de Kamp Jacques Department of Clinical Genetics, University Hospital Leiden, Rijnsburgerweg 10, NL-2333, AA Leiden, The Netherlands aut NATIONALLICENCE 700 1- Pearson Peter Department of Human Genetics, Sylvius Laboratoria, Wassenaarseweg 72, NL-2333, AL Leiden, The Netherlands aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/3(1990-08-01), 288-292 0340-6717 85:3<288 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer