ClinGen Dosage Sensitivity Curation Page

14q32 region associated with UPD(14) phenotypes

  • Curation Status: Complete
  • id: ISCA-37449
  • Date last evaluated: 2012-05-10
  • Issue Type: ClinGen Region Curation
  • ClinGen Haploinsufficiency Score: 2
  • ClinGen Triplosensitivity Score: 0

Location Information

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Evidence for haploinsufficiency phenotype
PubMed ID Description
20179077 Bena et al. (2010): A report of a patient with a de novo deletion of this region, of paternal origin, who had a UPD(14)mat phenotype. They determined that this deletion was mediated by flanking (TGG)n tandem repeats. The deletion encompasses multiple genes, both imprinted and non-imprinted. The authors also show that the patient previously reported by Buiting et al (2008), see below, had the identical deletion.
18454453 Buiting et al (2008): A report of a patient with a deletion mediated by the flanking (TGG)n tandem repeats as described by Bena (2010) who had a UPD(14)mat phenotype. The deletion was paternally derived based on methylation-sensitive PCR, although the father was not available for testing.

Haploinsufficiency phenotype comments:

In addition to the two patients described above, there is one case in the ISCA database with a de novo deletion with the same breakpoints who had failure to thrive. The phenotype associated with this deletion would depend on the parental origin. Additional larger deletions that overlap this region have also been reported in individuals with UPD(14)mat and UPD(14)pat phenotypes (PMID: 18176563).

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