ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000017.10) (NC_000017.11)
Evidence for haploinsufficiency phenotype
PubMed ID Description
7990924 Foster et al. (1994) found a de novo nonsense change (195X) in SOX9 in a 46,XX female with CD and a de novo 4-bp insertion resulting in a frameshift in a 46,XY female in an aborted fetus with short limbs, cystic hygroma, micrognathia and normal female genitalia.
8894698 Cameron et al. (1996) identified a family with 3 affected individuals with CD and sex reversal. They found a 1-bp insertion in SOX9, resulting in a frameshift and stop codon. The 3 individuals carried the same mutation, but varied with respect to the gonadal phenotype. The father was shown to be a germ-line mosaic for the mutation.
8001137 Wagner et al. (1994) found a de novo nonsense mutation in SOX9 (Y44OX) in an XY female with CD.

Haploinsufficiency phenotype comments:

Haploinsufficiency of SOX9 causes campomelic dysplasia, characterized by skeletal defects and XY sex reversal (in the majority of cases). Disruptions of the regulatory region of SOX9 (via translocations, etc) have also been associated with CD (PMID 17204049).

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