title: Incidence of Menkes disease.
abstract: We have calculated the incidence of Menkes disease for Denmark, France, The Netherlands, the United Kingdom and West Germany, based on known Menkes patients born during the time period 1976-87. Considering live-born Menkes patients, the combined incidence for these five countries is 1 Menkes patient per 298,000 live-born babies. If the number of affected aborted fetuses are taken into account, the incidence is 1 Menkes per 254,000 live-born babies. This incidence, which is 2-4 times lower than earlier published incidence figures, places Menkes disease as an extremely rare disease. The mutation rate for Menkes disease is estimated to be 1.96 x 10(-6), based on the number of isolated Menkes cases born during the time period 1976-87 and the total number of newborn males during this time.
authors.affiliation: John F. Kennedy Institute, Glostrup, Denmark.
authors.forename: T
authors.initials: T
authors.lastname: Tønnesen
authors.forename: W J
authors.initials: WJ
authors.lastname: Kleijer
authors.forename: N
authors.initials: N
authors.lastname: Horn
mesh_terms: D003718:Denmark; D005602:France; D005860:Germany, West; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D007706:Menkes Kinky Hair Syndrome / Q000453:epidemiology* / Q000235:genetics; D009426:Netherlands; D006113:United Kingdom; D014960:X Chromosome