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. 2001 Jul 24;57(2):327-30.
doi: 10.1212/wnl.57.2.327.

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

L Demelas  1 , G Serra, M Conti, A Achene, C Mastropaolo, N Matsumoto, L L Dudlicek, P L Mills, W B Dobyns, D H Ledbetter, S Das
Affiliations

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

L Demelas et al. Neurology. .

Abstract

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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