ClinGen Dosage Sensitivity Curation Page

MYCN

  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
Evidence for haploinsufficiency phenotype
PubMed ID Description
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.

Haploinsufficiency phenotype comments:

MYCN haploinsufficiency is causative for Feingold syndrome.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

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.