ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000019.9) (NC_000019.10)
Evidence for haploinsufficiency phenotype
PubMed ID Description
2563227 Hearle et al 2006 report multiple (38) unrelated probands with Peutz-Jeghers syndrome assessed for STK11 mutations (exon deletions, nonsense, missense and loss of function from in-frame deletions in kinase domain). 16% (6/38) carry exon deletions and total 50% (19/38) had mutations in STK11: "four nonsense mutations, six deletions, and two insertions predicted to lead to truncation of the expressed protein, four missense mutations, and three splice site mutations".
20623358 Resta et al 2010 reports multiple unrelated probands with Peutz-Jeghers syndrome carrying large deletions detected by MLPA (15/51 ~29%)

Haploinsufficiency phenotype comments:

Deletions (whole gene and exonic) and loss-of-function mutations in STK11 are associated with Peutz-Jeghers syndrome (PJS). From OMIM: " an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms."

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

Triplosensitivity phenotype comment:

At this time there is no evidence for triplosensitivity of this gene.