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Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

26 Mar 2017

Abstract excerpt

It is well established that somatic genomic changes can influence phenotypes in cancer, but the role of adaptive changes in developmental disorders is less well understood. Here we have used next-generation sequencing approaches to identify de novo heterozygous mutations in sterile α motif domain-containing protein 9 (SAMD9, located on chromosome 7q21.2) in 8 children with a multisystem disorder termed MIRAGE...

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PMID: 28346228
DOI: 10.1172/jci91913

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