ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
Evidence for haploinsufficiency phenotype
PubMed ID Description
17377962 Leoyklang et al. (2007) reported a de novo nonsense mutation (c.715C>T, p.R239X) in SATB2 in an individual with cleft palate, profound ID, epilepsy and osteoporosis.
19668335 Rosenfeld et al. (2009) reported three unrelated individuals with intragenic SATB2 deletions who presented with overlapping clinical features including severe developmental delay, cleft palate (1 of 3), and tooth abnormalities (variable expressivity).

Haploinsufficiency phenotype comments:

Loss of function mutations result in intellectual disability, cleft palate (reduced penetrance), and tooth abnormalities (variable expressivity). Of note: FitzPatrick et al. (2003) used high-resolution Fluorescence in situ hybridization studies to map two de novo translocation breakpoints in individuals with isolated cleft palate. In one individual the translocation break point disrupted the coding region of the SATB2 gene. In the second individual, the translocation break point mapped 130 kb 3' to SATB2 in a highly conserved region of noncoding DNA (PMID: 12915443)

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