14q32 region associated with UPD(14) phenotypes |
- 2
Haplo
Score - 0
Triplo
Score
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-37449
Curation Status:
Complete
Issue Type:
Dosage Curation -
Region
Haploinsufficiency:
Emerging Evidence for Haploinsufficiency
(2)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Related Links:
Last Evaluated:
05/10/2012
Haploinsufficiency (HI) Score Details
HI Score:
2
HI Evidence Strength:
Emerging Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- paternal uniparental disomy of chromosome 14 Monarch
HI Evidence:
-
PUBMED:
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.
-
PUBMED:
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.
HI Evidence 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 (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)