PubMed ID | Description |
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16906565 | Teszas et al. (2006): Identified a nonsense mutation in MYCN in a proband with Feingold syndrome. The mutation was inherited from the mother (and also present in the grandmother), both of whom had less severe clinical phenotypes. |
18671284 | Blaumeiser et al. (2008): Identified a de novo heterozygous 1-bp duplication in MYCN in a proband with Feingold syndrome. The mutation was predicted to result in premature truncation and nonsense-mediated mRNA decay. |
18470948 | Marcelis et al. (2008): Identified a nonsense mutation in MYCN that segregated with Feingold syndrome. |
MYCN haploinsufficiency is causative for Feingold syndrome.
This review pertains to evidence linking focal duplication of MYCN to clinical phenotypes. Due to the presence of other genes in reported duplications, gene-level triplosensitivity is currently scored as 0. Please see the linked region for further evidence relating to the MYCN-DDX1 recurrent duplication region.