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The article “Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders” by Aigner et al. in this issue of Neurology indicates that many mutations are “silent” in the form of somatic mutations, changing the recommendations for genetic screening and counseling.
Subcortical band heterotopia is a mosaic disease due to random X-inactivation.
Mutations in the X-linked gene doublecortin (DCX) are the cause of X-linked lissencephaly in males and X-linked subcortical band heterotopia in females. Because females have two X chromosomes and randomly inactivate one in every cell, females are normally mosaics for two populations of cells. Following random X-inactivation in females with a DCX mutation, approximately half of cells express the mutation, suggesting the hypothesis that mutant cells constitute the heterotopic band in the brain. Recent data support this suggestion.1
Traditional thinking about inheritance patterns challenged.
Genetic conditions inherited in a dominant fashion, whether X-linked or autosomal, are typically fully penetrant: …
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