Article
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2021
Carmignac Virginie, Mignot Cyril, Blanchard Emmanuelle, Kuentz Paul, Aubriot-Lorton Marie-Hélène, Parker Victoria E R, Sorlin Arthur, Fraitag Sylvie, Courcet Jean-Benoît, Duffourd Yannis, Rodriguez Diana, Knox Rachel G, Polubothu Satyamaanasa, Boland Anne, Olaso Robert, Delepine Marc, Darmency Véronique, Riachi Melissa, Quelin Chloé, Rollier Paul, Goujon Louise, Grotto Sarah, Capri Yline, Jacquemont Marie-Line, Odent Sylvie, Amram Daniel, Chevarin Martin, Vincent-Delorme Catherine, Catteau Benoît, Guibaud Laurent, Arzimanoglou Alexis, Keddar Malika, Sarret Catherine, Callier Patrick, Bessis Didier, Geneviève David, Deleuze Jean-François, Thauvin Christel, Semple Robert K, Philippe Christophe, Rivière Jean-Baptiste, Kinsler Veronica A, Faivre Laurence, Vabres Pierre
Abstract excerpt
PURPOSE: Hypomelanosis of Ito (HI) is a skin marker of somatic mosaicism. Mosaic MTOR pathogenic variants have been reported in HI with brain overgrowth. We sought to delineate further the pigmentary skin phenotype and clinical spectrum of neurodevelopmental manifestations of MTOR-related HI. METHODS: From two cohorts totaling 71 patients with pigmentary mosaicism, we identified 14 patients with Blaschko-linear...
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