Article
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.
Nature communications - 2 Nov 2015
Merico Daniele, Roifman Maian, Braunschweig Ulrich, Yuen Ryan K C, Alexandrova Roumiana, Bates Andrea, Reid Brenda, Nalpathamkalam Thomas, Wang Zhuozhi, Thiruvahindrapuram Bhooma, Gray Paul, Kakakios Alyson, Peake Jane, Hogarth Stephanie, Manson David, Buncic Raymond, Pereira Sergio L, Herbrick Jo-Anne, Blencowe Benjamin J, Roifman Chaim M, Scherer Stephen W
Abstract excerpt
Roifman Syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia and antibody deficiency. Here we utilize whole-genome sequencing of Roifman Syndrome patients to reveal compound heterozygous rare variants that disrupt highly conserved positions of the RNU4ATAC small nuclear RNA gene, a minor spliceosome component that is essential for minor intron...
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