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17p11.2 recurrent (SMS/PLS) region (includes RAI1) |
- 3
Haplo
Score - 3
Triplo
Score
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-37418
Curation Status:
Complete
Issue Type:
Dosage Curation -
Region
Description:
This review refers to the 17p11.2 recurrent (SMS/PLS) region (includes RAI1).
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)
Related Links:
Last Evaluated:
11/21/2013
Haploinsufficiency (HI) Score Details
HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- Smith-Magenis syndrome Monarch
HI Evidence Comments:
Deletions of this region are a recurrent cause of Smith-Magenis syndrome (SMS) and are mediated by segmental duplications. Mutations in the RAI1 gene have been identified in patients with Smith-Magenis syndrome and haploinsufficiency of this gene is believed to be responsible for the majority of this phenotype. While there is some variability in the size of deletions associated with SMS, due to multiple segmental duplications in the region, all deletions contain the RAI1 gene. See GeneReview.
Triplosensitivity (TS) Score Details
TS Score:
3
TS Evidence Strength:
Sufficient Evidence for Triplosensitivity (Disclaimer)
TS Disease:
- Potocki-Lupski syndrome Monarch
TS Published Evidence:
-
PUBMED: 17357070
Potocki et al, (2007) report 22 patients with a 17p11.2 duplication (reciprocal to the SMS deletion) who have similar clinical findings. They also report 13 patients with duplications of variable size. They named this condition Potocki-Lupski syndrome.
-
PUBMED: 20188345
Zhang et al. (2010) report 35 new patients with 17p11.2 duplications. The smallest region of overlap between 74 cases included the RAI1 gene.
TS Evidence Comments:
Duplications of this region cause Potocki-Lupski syndrome and are mediated by segmental duplications.
Genomic View
Select assembly:
(NC_000017.10)
()
