caa a22 4500 475786904 CHVBK 20180406123701.0 cr unu---uuuuu 170329e20001201xx s 000 0 eng 10.1007/PL00014400 doi (NATIONALLICENCE)springer-10.1007/PL00014400 Mutation screening for prenatal and presymptomatic diagnosis: cystic fibrosis and haemochromatosis [Elektronische Daten] [Manfred Stuhrmann, Notker Graf, Thilo Dörk, Jörg Schmidtke] Hereditary haemochromatosis (HH) and cystic fibrosis (CF) are the most common autosomal recessively inherited disorders in Caucasian populations. In its typical form, CF manifests during the first years of life, while the mean age of onset of organ damage is 54 years in HH. Both disorders can be diagnosed presymptomatically utilising biochemical and/or genetic testing. Since approximately 90% of mid-European HH patients are homozygous for only one specific mutation (C282Y) in the candidate gene for HH, genetic testing is simple and sensitive in HH. In CF, molecular testing is currently hampered by the large number (more than 800) of mutations in the CF transmembrane conductance regulator gene. Several studies have been initiated to investigate the potential benefits and the best time and mode of presymptomatic testing for HH and CF. Conclusion Mutation analysis is widely recommended for presymptomatic diagnosis of cystic fibrosis and hereditary haemochromatosis because of the presumed benefit, although several medical, ethical, social and technical questions warrant further investigations. Prenatal mutation testing is commonly performed for cystic fibrosis but not for hereditary haemochromatosis. Informed consent of tested individuals and the availability of genetic counselling is a prerequisite for any mutation screening approach in either disease. Springer-Verlag Berlin Heidelberg, 2000 Key words Cystic fibrosis nationallicence Haemochromatosis nationallicence Mutation analysis nationallicence Screening nationallicence Stuhrmann Manfred Institut für Humangenetik, Medizinische Hochschule Hannover, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany e-mail: Stuhrmann.Manfred@MH-Hannover.de Tel.: +49-511-532 3719; Fax: +49-511-5325865, DE aut Graf Notker Institut für Humangenetik, Medizinische Hochschule Hannover, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany e-mail: Stuhrmann.Manfred@MH-Hannover.de Tel.: +49-511-532 3719; Fax: +49-511-5325865, DE aut Dörk Thilo Institut für Humangenetik, Medizinische Hochschule Hannover, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany e-mail: Stuhrmann.Manfred@MH-Hannover.de Tel.: +49-511-532 3719; Fax: +49-511-5325865, DE aut Schmidtke Jörg Institut für Humangenetik, Medizinische Hochschule Hannover, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany e-mail: Stuhrmann.Manfred@MH-Hannover.de Tel.: +49-511-532 3719; Fax: +49-511-5325865, DE aut https://doi.org/10.1007/PL00014400 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00014400 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Stuhrmann Manfred Institut für Humangenetik, Medizinische Hochschule Hannover, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany e-mail: Stuhrmann.Manfred@MH-Hannover.de Tel.: +49-511-532 3719; Fax: +49-511-5325865, DE aut NATIONALLICENCE 700 1- Graf Notker Institut für Humangenetik, Medizinische Hochschule Hannover, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany e-mail: Stuhrmann.Manfred@MH-Hannover.de Tel.: +49-511-532 3719; Fax: +49-511-5325865, DE aut NATIONALLICENCE 700 1- Dörk Thilo Institut für Humangenetik, Medizinische Hochschule Hannover, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany e-mail: Stuhrmann.Manfred@MH-Hannover.de Tel.: +49-511-532 3719; Fax: +49-511-5325865, DE aut NATIONALLICENCE 700 1- Schmidtke Jörg Institut für Humangenetik, Medizinische Hochschule Hannover, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany e-mail: Stuhrmann.Manfred@MH-Hannover.de Tel.: +49-511-532 3719; Fax: +49-511-5325865, DE aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer