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.
Publication types
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adolescent
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Brain / pathology*
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Brain Diseases / genetics*
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Brain Diseases / pathology*
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Child
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Child, Preschool
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Doublecortin Domain Proteins
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Doublecortin Protein
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Female
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Genetic Linkage / genetics
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Germ-Line Mutation / genetics*
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Humans
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Magnetic Resonance Imaging
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Microtubule-Associated Proteins*
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Neuropeptides / genetics*
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Pedigree
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Penetrance*
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X Chromosome / genetics*
Substances
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DCX protein, human
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Doublecortin Domain Proteins
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Doublecortin Protein
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Microtubule-Associated Proteins
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Neuropeptides