 |
11q13.2q13.4 recurrent region (includes SHANK2, FGFs) |
- 2
Haplo
Score - 0
Triplo
Score
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-37498
Curation Status:
Complete
Issue Type:
Dosage Curation -
Region
Description:
This review refers to the 11q13.2q13.4 recurrent region (includes SHANK2, FGFs).
Note that genes used as landmarks are not necessarily causative of the phenotype(s) associated with the region
Haploinsufficiency:
Emerging Evidence for Haploinsufficiency
(2)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Related Links:
Last Evaluated:
09/27/2022
Haploinsufficiency (HI) Score Details
HI Score:
2
HI Evidence Strength:
Emerging Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence:
-
PUBMED:
21373257
Wischmeijer et al. (2010) describe a 3.4 Mb deletion (hg38 coordinates chr11:68,001,284-71,575,789) in a child with dysmorphic features, small teeth, moderate to severe intellectual disability, language delay, and developmental delay. The deletion was flanked by inverted homologous segmental duplications, and is a region predicted by Sharp et al (2006) to be susceptible to LCR mediated copy number variation (PMID: 16906162). Parental testing revealed that the deletion was de novo and that it occurred on the maternally-derived chromosome 11.
-
PUBMED:
28211979
Marcou et al. (2016) describe a 3.5 Mb deletion (hg38 coordinates chr11:68,031,693-71,593,495) in a child with moderate to severe intellectual disability, language delay, developmental delay, feeding difficulty, microcephaly, dysmorphic craniofacial features, widely spaced teeth, long slender fingers with 5th finger clinodactyly, and additional clinical findings. Parental FISH testing was performed revealed that this deletion was de novo.
HI Evidence Comments:
Evidence supporting 11q13.2q13.4 (SHANK2/FGFs) haploinsufficiency is considered to be emerging at this time. There are currently two patients reported in the literature with de novo deletions of this entire region and a third patient (summarized below) with a deletion involving a majority of this region (inheritance unknown). Clinical findings in common include developmental delay, speech delay, intellectual disability, microcephaly, long slender fingers with 5th finger clinodactyly, as well as several dysmorphic craniofacial features. Statistical significance for enrichment of 11q13.2q13.4 deletions amongst patients has not been observed, possibly due to its relative rarity. Therefore the haploinsufficiency score is 2.
Additional relevant literature is summarized below:
PMID 28018436:
Kim et al. (2016) describe a 2.75 Mb deletion (hg38 coordinates chr11:68,000,777-70,748,975) in a 12 month old child with moderate developmental delay, microcephaly, dysmorphic craniofacial features, and delayed dentition. This deletion is smaller than the deletions that are flanked by segmental duplications, but involves both FGF3 and SHANK2. Parental testing was not reported for this patient.
PMID 25217958:
Coe et al., (2014): In a large-scale case-control comparison study of the relative prevalence of copy number variants in patients with ID/DD, MCA, and other developmental phenotypes compared to controls, 11q13.2q13.4 (SHANK2/FGFs) region deletions were observed in 1/29,085 patients and 0/19,584 controls (p=0.5980).
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
There is currently no evidence to support triplosensitivity of this region; therefore the triplosensitivity score is 0.
Additional relevant literature is summarized below:
PMID 25217958:
Coe et al., (2014): In a large-scale case-control comparison study of the relative prevalence of copy number variants in patients with ID/DD, MCA, and other developmental phenotypes compared to controls, 11q13.2q13.4 (SHANK2/FGFs) region duplications were observed in 0/29,085 patients and 0/19,584 controls (p=1.0000).
Genomic View
Select assembly:
(NC_000011.9)
()
