Agenesis of the corpus callosum in a mother and son

✍ Scribed by Inbar, Dov; Halpern, Gabrielle J.; Weitz, Raphael; Sadeh, Michelle; Shohat, Mordechai

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 162 KB
• Volume: 69
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19970317)69:2<152::aid-ajmg6>3.0.co;2-r

✦ Synopsis

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. Am. J. Med. Genet. 69:152-154, 1997.