Aims

To identify the underlying genetic cause of these conditions. This would tremendously enhance the capacity of clinicians to provide accurate prognostic information to families when diagnosis of the disorder is identified in the second trimester of pregnancy. It will also provide a way to classify the disorder or syndrome providing essential information on what challenges the individual will face in their life and will serve as the first step toward developing targeted therapies for these individuals. The establishment of a diagnosis also allows accurate genetic counseling with estimation of recurrence risk, and to monitor at-risk pregnancies.

Working Group Contact

  • Elliott Sherr

Working Group Members

  • Tania Attié-Bitach
  • Rick Leventer
  • Paul Lockhart
  • George McGillivray

Recent Publications

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.  Nature Genetics  49, 511–514

Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual.

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