ClinGen Dosage Sensitivity Curation Page

FHIT

  • Curation Status: Complete

Location Information

Select assembly: (NC_000003.11) (NC_000003.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
17363630 Sebat et al (2007) searched for de novo CNVs in patients with autism. DNA samples were prepared from blood and/or immortalized B cells. Two independent de novo deletions involving FHIT were detected. Of note, one of these was detected in DNA derived from the patient's cell line, but not detected in DNA derived from the same patient's blood sample.
2337565 Girirajan et al (2013) studied CNVs in patients with autistic features. Deletions involving FHIT exons were identified in two patients and also in two controls.

Haploinsufficiency phenotype comments:

FHIT is located at a fragile site and is commonly deleted in cancer (e.g. PMIDs 11902576 and 29748005).

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Evidence for triplosensitivity phenotype
PubMed ID Description
27113213 Fry et al (2016) studied CNVs in patients with intellectual disability or developmental delay and epilepsy. A paternally-inherited duplication involving the FHIT gene was observed in one patient. That same patient also had a de novo deletion involving CACNA1B and EHMT1.