Abstract
X-linked isolated lissencephaly sequence (ILS) and sub-cortical 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.
Original language | English (US) |
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Pages (from-to) | 327-330 |
Number of pages | 4 |
Journal | Neurology |
Volume | 57 |
Issue number | 2 |
DOIs | |
State | Published - Jul 24 2001 |
Externally published | Yes |