Article
Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti.
Molecular genetics and metabolism - 1 Nov 2017
Dangouloff-Ros Volodia, Hadj-Rabia Smail, Oliveira Santos Judite, Bal Elodie, Desguerre Isabelle, Kossorotoff Manoelle, An Isabelle, Smahi Asma, Bodemer Christine, Munnich Arnold, Steffann Julie, Boddaert Nathalie
Abstract excerpt
Incontinentia Pigmenti (IP) is a skin disorder with neurological impairment in 30% of cases. The most common disease causing mutation is a deletion of exons 4-10 of the IKBKG gene, located on chromosome Xq28, with skewed X-chromosome inactivation in females, but few cases of random X-inactivation have been reported. We have correlated brain anomalies with X-chromosome inactivation status determined on leucocytes...
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