Abstract
Subcortical 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.
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Acknowledgments
This research was supported by a grant from The French Agence National de la Recherche (ANR-08-MNP-013) (to NBB), French Agence National de la Recherche (ANR-2010- GenCo–TrCD) and ERA-Net for Research Programmes on Rare Diseases (E-RARE-2) (TUB-GENCODEV) (to JC) and Fondation pour la Recherche Médicale (FRM). We would like to thank Dr. Karine Lascelles for careful reading and helpful discussion on the manuscript. We also thank Dr. Pascale Sonigo for her expertise in the interpretation of foetal brain MRI
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Chloé Quélin and Yoann Saillour are equal contributors.
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Quélin, C., Saillour, Y., Souville, I. et al. Mosaic DCX deletion causes subcortical band heterotopia in males. Neurogenetics 13, 367–373 (2012). https://doi.org/10.1007/s10048-012-0339-4
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DOI: https://doi.org/10.1007/s10048-012-0339-4