Abstract 809 Mechanisms in Hereditary Disease Platform, Tuesday, 5/4

Menkes disease is an X-linked disorder of copper transport caused by mutations in a gene for a copper(Cu)-transporting ATPase. Hemizygotes show dermatological and connective tissue manifestations, progressive neurological deterioration, and death in early childhood. Little is known about the phenotypic effects in heterozygotes. We studied an obligate heterozygote and her sister and daughters to delineate the nature and spectrum of manifestations in heterozygotes carrying the same severe Menkes disease mutation. Linkage studies based on an intragenic polymorphism confirmed heterozygosity in the mother, sister, and two of the three daughters. The oldest daughter was not a carrier and was normal on all evaluations.

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