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  • Title: Agenesis of the corpus callosum in a mother and son.
    Author: Inbar D, Halpern GJ, Weitz R, Sadeh M, Shohat M.
    Journal: Am J Med Genet; 1997 Mar 17; 69(2):152-4. PubMed ID: 9056551.
    Abstract:
    Most reported familial cases of agenesis of the corpus callosum have followed either an autosomal recessive or an X-linked recessive pattern of inheritance. To the best of our knowledge, there is only one previous report of a family showing clear-cut autosomal dominant inheritance. We present the second such family, among whom a mother and her son had moderately severe coordination problems and low-normal intelligence. We suggest that agenesis of the corpus callosum, when transmitted as an autosomal dominant trait, is clinically characterized by a relatively milder phenotype than that occurring when inheritance is either autosomal or X-linked recessive and may be more common than has been thought.
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