ArticleNeurogenetics2012
Mosaic DCX deletion causes subcortical band heterotopia in males.
Article in Neurogenetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 19 citations in OpenAlex.
- Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations.Acta neuropathologica · 2024Article
- Double cortex syndrome (subcortical band heterotopia): A case report.Radiology case reports · 2023Article
- Toward a Better Understanding of Neuronal Migration Deficits in Autism Spectrum Disorders.Frontiers in cell and developmental biology · 2019Review
- Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.PloS one · 2017Article
- Causes and consequences of gray matter heterotopia.CNS neuroscience & therapeutics · 2015Review
- Double Cortex Syndrome (Subcortical Band Heterotopia): A Case Report.Iranian journal of child neurology · 2015Article
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Authors and funding
12 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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