Article
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
Brain : a journal of neurology - 3 Mar 2021
Riedhammer Korbinian M, Stockler Sylvia, Ploski Rafal, Wenzel Maren, Adis-Dutschmann Burkhard, Ahting Uwe, Alhaddad Bader, Blaschek Astrid, Haack Tobias B, Kopajtich Robert, Lee Jessica, Murcia Pienkowski Victor, Pollak Agnieszka, Szymanska Krystyna, Tarailo-Graovac Maja, van der Lee Robin, van Karnebeek Clara D, Meitinger Thomas, Krägeloh-Mann Ingeborg, Vill Katharina
Abstract excerpt
Claudin-11, a tight junction protein, is indispensable in the formation of the radial component of myelin. Here, we report de novo stop-loss variants in the gene encoding claudin-11, CLDN11, in three unrelated individuals presenting with an early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia. Brain MRI showed a myelin deficit with a discrepancy between...
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