1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5)

  • 3
    Haplo
    Score
  • 3
    Triplo
    Score

Region Facts

Region Name
1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5)
Cytoband
1q21.1-q21.2
Genomic Coordinates
GRCh37/hg19 chr1:146577486-147394506 NCBI Ensembl UCSC
GRCh38/hg38 chr1:147105904-147917509 NCBI Ensembl UCSC

Dosage Sensitivity Summary (Region)

Dosage ID:
ISCA-37421
Curation Status:
Complete
Issue Type:
Dosage Curation - Region
Description:
The 1q distal region contains a cluster of low copy repeats that mediate recurrent copy number changes through non-allelic homologous recombination. This review refers to copy number changes involving recurrent breakpoint (BP) regions BP3 and BP4. Note that genes used as landmarks are not necessarily causative of the complete phenotype(s) associated with the region.
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
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Triplosensitivity:
Sufficient Evidence for Triplosensitivity (3)
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Related Links:
Last Evaluated:
04/14/2016

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • chromosome 1q21.1 deletion syndrome Monarch
HI Evidence:
HI Evidence Comments:
This region is also known as the distal 1q21.1 (BP3-BP4-flanked region). Both incomplete penetrance and variable expressivity have been demonstrated for deletion of the distal 1q21.1 region.

Triplosensitivity (TS) Score Details

TS Score:
3
TS Evidence Strength:
Sufficient Evidence for Triplosensitivity (Disclaimer)
TS Disease:
  • chromosome 1q21.1 duplication syndrome Monarch
TS Published Evidence:
  • PUBMED: 22199024
    From a cohort of 948 patients with tetralogy of Fallot (TOF), 1488 patients with other forms of congenital heart disease (CHD) and 6740 ethnically matched controls Soemedi et al (2011) found that the 1q21.1 duplication was more common in cases of TOF than in controls p value = 2.2E-7, but the deletion was not. They also detected 3 small duplications (100-200 kb) that encompassed a single gene in common, GJA5. The small duplication was enriched in cases of TOF in comparison to controls (p value = 0.01) suggesting GJA5 as the gene responsible for the CHD phenotype.
  • PUBMED: 23018752
    Dolcetti et al. (2013) comprehensively reviewed all reports of 1q21.1 duplications to date, focusing on expression of clinical features in the adult population. In total 107 individuals from 76 families were identified from the literature reviewed and seven adult cases were reported from studies of schizophrenia and tetralogy of Fallot (TOF) at their center. Their study showed that 1q21.1 duplication is significantly enriched in populations of patients with major developmental conditions, including TOF and schizophrenia.
  • PUBMED: See Gene Reviews
    http://www.ncbi.nlm.nih.gov/books/NBK52787/
TS Evidence Comments:
This region is also known as the distal 1q21.1 (BP3-BP4-flanked region). Both incomplete penetrance and variable expressivity have been demonstrated for duplication of the distal 1q21.1 region.

Genomic View

Select assembly: (NC_000001.10) ()