ClinGen Dosage Sensitivity Curation Page

ARCN1

  • Curation Status: Complete

Location Information

  • 11q23.3
  • GRCh37/hg19 chr11: 118,443,102-118,473,748
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr11: 118,572,363-118,603,033
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000011.9) (NC_000011.10)
Evidence for haploinsufficiency phenotype
PubMed ID Description
27476655 Izumi et al [2016] describe 4 unrelated individuals with heterozygous loss of function mutations in ARCN1 resulting in facial dysmorphisms, including severe micrognathia, rhizomelic shortening, and microcephalic dwarfism. The mutations included 2 missense, one nonsense, and one frameshift. Functional studies confirmed reduced mRNA expression, and Western blot demonstrated reduced protein expression.
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity