 |
7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) |
- 3
Haplo
Score - 3
Triplo
Score
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-37392
Curation Status:
Complete
Issue Type:
Dosage Curation -
Region
Description:
The 7q11.23 region contains a cluster of low copy repeats (LCR) that mediate recurrent copy number changes through non-allelic homologous recombination. This review refers to CNVs involving the unique sequence between LCR-C Mid and LCR-B Mid.
Note that genes used as landmarks are not necessarily causative of the phenotype(s) associated with the region.
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency
(3)
Triplosensitivity:
Sufficient Evidence for Triplosensitivity
(3)
Last Evaluated:
08/06/2015
Haploinsufficiency (HI) Score Details
HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- Williams syndrome Monarch
HI Evidence:
HI Evidence Comments:
Deletion of this region is associated with Williams-Beuren syndrome (WBS, synonym: Williams syndrome). Clinical findings in WBS may include: cardiovascular abnormalities, craniofacial anomalies, connective tissue abnormalities, intellectual disability, urogenital anomalies, dysmorphic features, and unique personality traits. WBS shows complete penetrance and variable expressivity. The majority of WBS cases are de novo.
Triplosensitivity (TS) Score Details
TS Score:
3
TS Evidence Strength:
Sufficient Evidence for Triplosensitivity (Disclaimer)
TS Disease:
- 7q11.23 microduplication syndrome Monarch
TS Published Evidence:
TS Evidence Comments:
Duplication of this region is associated with Duplication 7q11.23 syndrome. With 48 patients currently reported in the literature (see PMIDs 26109321, 22369319, 19249392, 17666889), there is sufficient evidence to support the triplosensitivity of this region. Clinical findings in Duplication 7q11.23 syndrome may include: speech delay, autistic features (PMID: 21658581), motor delay, seizures, hypotonia, brain anomalies, joint laxity, and craniofacial abnormalities. Duplication 7q11.23 syndrome is considered to be highly penetrant with patients showing variable expressivity. In a large-scale case-control comparison study of the relative prevalence of copy number variants in children with ID/DD, MCA, and other developmental phenotypes compared to controls, 7q11.23 duplications were observed in 28/29,085 cases versus 0/19,584 controls (p=5.46E-7) Coe et al. 2014; PMID 25217958; see also Cooper et al. 2011; PMID 25424174). Both inherited and de novo cases of 7q11.23 duplications have been reported in the literature.
Genomic View
Select assembly:
(NC_000007.13)
()
