title: Mosaic DCX deletion causes subcortical band heterotopia in males.
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.
authors: Génétique Clinique Centre de référence "Maladies Rares" CLAD-Ouest CHU Rennes, Rennes, France.
authors: Chloé
authors: C
authors: Quélin
authors: Yoann
authors: Y
authors: Saillour
authors: Isabelle
authors: I
authors: Souville
authors: Karine
authors: K
authors: Poirier
authors: Marie Ange
authors: MA
authors: N'guyen-Morel
authors: Laurent
authors: L
authors: Vercueil
authors: Anne Elodie
authors: AE
authors: Millisher-Bellaiche
authors: Nathalie
authors: N
authors: Boddaert
authors: Fanny
authors: F
authors: Dubois
authors: Jamel
authors: J
authors: Chelly
authors: Cherif
authors: C
authors: Beldjord
authors: Nadia
authors: N
authors: Bahi-Buisson
mesh_terms: D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics; D054221:Classical Lissencephalies and Subcortical Band Heterotopias / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009030:Mosaicism; D009479:Neuropeptides / Q000235:genetics*; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal
chemical_list: C000714328:DCX protein, human; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D008869:Microtubule-Associated Proteins; D009479:Neuropeptides