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Neurology. 2001 Jul 24;57(2):327-30.

Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.

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Institute of Child Neuropsychiatry, The University of Sassari, Italy.


X-linked isolated lissencephaly sequence (ILS) and subcortical band heterotopia are allelic human disorders associated with mutations of the DCX gene in both familial and sporadic forms. The authors describe a large Sardinian family in which three brothers with ILS have a missense mutation of the DCX gene. Their mother, a nonmosaic carrier, has a normal phenotype and cranial MRI. Skewed X-inactivation in the lymphocytes was also ruled out. This is the first report of an asymptomatic carrier of a DCX mutation likely due to apparent nonpenetrance.

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