-
- Chloé Quélin, Yoann Saillour, Isabelle Souville, Karine Poirier, Marie Ange N'guyen-Morel, Laurent Vercueil, Anne Elodie Millisher-Bellaiche, Nathalie Boddaert, Fanny Dubois, Jamel Chelly, Cherif Beldjord, and Nadia Bahi-Buisson.
- Génétique Clinique Centre de référence "Maladies Rares" CLAD-Ouest CHU Rennes, Rennes, France.
- Neurogenetics. 2012 Nov 1;13(4):367-73.
AbstractSubcortical band heterotopia (SBH) is a neuronal migration disorder usually described in females carrying heterozygous mutations in the X-linked doublecortin (DCX) gene. Hemizygous DCX mutations in males result in lissencephaly. Recently, exonic deletions of DCX resulting in a severer form of agyria have been reported. Nevertheless, rare male patients with SBH have been described with somatic mosaicism of point mutations. Here, we identified a somatic mosaicism for a deletion of exon 4 in the DCX gene in a male patient with SBH detected prenatally. This finding points to the possible implication of mosaic deletions in the DCX gene in unexplained forms of SBH and may allow for detection of SBH prenatally.
Notes
Knowledge, pearl, summary or comment to share?You can also include formatting, links, images and footnotes in your notes
- Simple formatting can be added to notes, such as
*italics*,_underline_or**bold**. - Superscript can be denoted by
<sup>text</sup>and subscript<sub>text</sub>. - Numbered or bulleted lists can be created using either numbered lines
1. 2. 3., hyphens-or asterisks*. - Links can be included with:
[my link to pubmed](http://pubmed.com) - Images can be included with:
 - For footnotes use
[^1](This is a footnote.)inline. - Or use an inline reference
[^1]to refer to a longer footnote elseweher in the document[^1]: This is a long footnote..