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. Deletions and/or duplications in the DCX gene as causative of lissencephaly have been reported. 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) and Brandi Bratrude (firstname.lastname@example.org) to arrange this, if desired.
Specimen Types Accepted
If sending saliva, 2 kits are required.