Article
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
American journal of human genetics - 1 Oct 2020
Cristofoli Francesca, Moss Tonya, Moore Hannah W, Devriendt Koen, Flanagan-Steet Heather, May Melanie, Jones Julie, Roelens Filip, Fons Carmen, Fernandez Anna, Martorell Loreto, Selicorni Angelo, Maitz Silvia, Vitiello Giuseppina, Van der Hoeven Gerd, Skinner Steven A, Bollen Mathieu, Vermeesch Joris R, Steet Richard, Van Esch Hilde
Abstract excerpt
Lamin B1 plays an important role in the nuclear envelope stability, the regulation of gene expression, and neural development. Duplication of LMNB1, or missense mutations increasing LMNB1 expression, are associated with autosomal-dominant leukodystrophy. On the basis of its role in neurogenesis, it has been postulated that LMNB1 variants could cause microcephaly. Here, we confirm this hypothesis with the...
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