ClinGen Dosage Sensitivity Curation Page

RAI1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000017.10) (NC_000017.11)
  • Haploinsufficiency score: 3
  • Strength of Evidence (disclaimer): Sufficient evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
15788730 Girirajan et al. (2005) analyzed four patients with SMS that did not have the typical 17p11.2 deletion and found 2 small deletions and 2 missense mutations. A 19 bp deletion resulting in a premature stop codon was identified in a proband but not her mother (the father was a sperm donor and unavailable). This deletion was not detected in 100 normal chromosomes tested. In an unrelated proband, a de novo 1 bp deletion (3801delC) resulting in a premature stop codon was identified.
15565467 Bi et al. (2004) found a de novo frameshift mutation resulting in premature stop codon (Q1035fsX30) and a nonsense mutation (R960X) in two patients with SMS that did not have the typical 17p11.2 deletion.
See GeneReviews for additional mutations.
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

Duplications of 17p11.2 including RAI1 are associated with Potocki-Lupski (PTLS). Zhang et al. (2010) analyze 74 patients with PTLS. They identified 8 novel non-recurrent duplications that helped them refine the SRO to a 125 kb that only includes RAI1. There are no duplication cases that include only RAI1 in this study (PMID: 20188345).