DCX [OMIM#300121] abnormalities result in severe lissencephaly or SBH in boys, but a less severe SBH in girls. DCX abnormalities are generally associated with an a>p gradient. In males, DCX mutations are present in approximately 30% with SBH and approximately 10% with lissencephaly. In females, DCX mutations are present in approximately 80% with SBH, especially those with diffuse bands or bilateral frontal only bands. Intragenic deletions of the DCX gene are present in approximately 10% of female patients with SBH in whom no mutations were identified by DCX sequencing. DCX sequencing is available as an individual test, as part of our Classic and Comprehensive Lissencephaly Panels, or as part of our X-Linked or Comprehensive Intellectual Disability Panels. Please see our information sheets for more details. Dr. William Dobyns at the Seattle Children’s Research Institute is available to review MRI scans and give recommendations regarding genetic testing. Please contact Dr. Dobyns (firstname.lastname@example.org) or his coordinators, Carissa Adams (email@example.com) andBrandi Bratrude (firstname.lastname@example.org) to arrange this, if desired. .
Specimen Types Accepted