Article
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.
Nature communications - 12 Mar 2021
Baxley Ryan M, Leung Wendy, Schmit Megan M, Matson Jacob Peter, Yin Lulu, Oram Marissa K, Wang Liangjun, Taylor John, Hedberg Jack, Rogers Colette B, Harvey Adam J, Basu Debashree, Taylor Jenny C, Pagnamenta Alistair T, Dreau Helene, Craft Jude, Ormondroyd Elizabeth, Watkins Hugh, Hendrickson Eric A, Mace Emily M, Orange Jordan S, Aihara Hideki, Stewart Grant S, Blair Edward, Cook Jeanette Gowen, Bielinsky Anja-Katrin
Abstract excerpt
Minichromosome maintenance protein 10 (MCM10) is essential for eukaryotic DNA replication. Here, we describe compound heterozygous MCM10 variants in patients with distinctive, but overlapping, clinical phenotypes: natural killer (NK) cell deficiency (NKD) and restrictive cardiomyopathy (RCM) with hypoplasia of the spleen and thymus. To understand the mechanism of MCM10-associated disease, we modeled these...
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