Article
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
HGG advances - 11 Apr 2024
Ansari Morad, Faour Kamli N W, Shimamura Akiko, Grimes Graeme, Kao Emeline M, Denhoff Erica R, Blatnik Ana, Ben-Isvy Daniel, Wang Lily, Helm Benjamin M, Firth Helen, Breman Amy M, Bijlsma Emilia K, Iwata-Otsubo Aiko, de Ravel Thomy J L, Fusaro Vincent, Fryer Alan, Nykamp Keith, Stühn Lara G, Haack Tobias B, Korenke G Christoph, Constantinou Panayiotis, Bujakowska Kinga M, Low Karen J, Place Emily, Humberson Jennifer, Napier Melanie P, Hoffman Jessica, Juusola Jane, Deardorff Matthew A, Shao Wanqing, Rockowitz Shira, Krantz Ian, Kaur Maninder, Raible Sarah, Dortenzio Victoria, Kliesch Sabine, Singer-Berk Moriel, Groopman Emily, DiTroia Stephanie, Ballal Sonia, Srivastava Siddharth, Rothfelder Kathrin, Biskup Saskia, Rzasa Jessica, Kerkhof Jennifer, McConkey Haley, Sadikovic Bekim, Hilton Sarah, Banka Siddharth, Tüttelmann Frank, Conrad Donald F, O'Donnell-Luria Anne, Talkowski Michael E, FitzPatrick David R, Boone Philip M
Abstract excerpt
Heterozygous missense variants and in-frame indels in SMC3 are a cause of Cornelia de Lange syndrome (CdLS), marked by intellectual disability, growth deficiency, and dysmorphism, via an apparent dominant-negative mechanism. However, the spectrum of manifestations associated with SMC3 loss-of-function variants has not been reported, leading to hypotheses of alternative phenotypes or even developmental lethality....
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