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

From the Institute of Child Neuropsychiatry (Drs. Demelas, Serra, and Mastropaolo) and the Institute of Radiological Science (Drs. Conti and Achene), The University of Sassari, Italy; and the Department of Human Genetics (Drs. Matsumoto, Dobyns, Ledbetter, and Das, and L.L. Dudlicek and P.L. Mills), The University of Chicago, IL.

Address correspondence and reprint requests to Dr. Luisa Demelas, Institute of Child Neuropsychiatry, University of Sassari, Piazza Università, 07100 Sassari, Italy; e-mail: demelas{at}ssmain.uniss.it

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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