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. ⋯ 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.
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,... more and Nadia Bahi-Buisson. less
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.