Cohen syndrome (CS) is a rare multi-system autosomal recessive disorder with a high prevalence in the Finnish population. Clinical features of Finnish-type CS are homogeneous, however, in non-Finnish populations, CS diagnosis is challenging due to broad phenotypic variability.
We studied a consanguineous family having three affected individuals with clinical features of severe intellectual disability and global developmental delay. Clinical diagnosis of the phenotype could not be established based on the features.
Therefore, whole genome SNP genotyping and whole exome sequencing (WES) were performed on DNA samples from affected and unaffected family members.Homozygosity mapping identified a shared loss of heterozygosity region on chromosome 8q22.1-q22.3 and WES data analysis revealed an insertion-deletion (indel) mutation (c.11519_11521delCAAinsT) in the VPS13B gene.
The indel is predicted to cause a frameshift resulting in a premature termination of the VPS13B protein (NP_060360.3:p.Pro3840Leufs*2).VPS13B encodes a giant transmembrane protein called vacuolar protein sorting 13 homolog B. VPS13B is known to play a role in the glycosylation of Golgi proteins and in endosomal-lysosomal trafficking.
 Bcat1 Blocking Peptide |
|
33R-1081 |
Fitzgerald |
100 ug |
EUR 180 |
|
Description: A synthetic peptide for use as a blocking control in assays to test for specificity of MTCH2 antibody, catalog no. 70R-2533 |
 Bovine IgG protein |
|
31R-1081 |
Fitzgerald |
1 mg |
EUR 257 |
|
Description: Purified native Bovine IgG protein |
 Caspase-1, human recombinant |
|
1081-100 |
Biovision |
|
EUR 452 |
Caspase-1, human recombinant |
|
1081-25 |
Biovision |
|
EUR 283 |
 CSTB antibody |
|
10R-1081 |
Fitzgerald |
100 ul |
EUR 316 |
|
Description: Mouse monoclonal CSTB antibody |
) Fibrinopeptide A antibody (HRP) |
|
60R-1081 |
Fitzgerald |
200 ug |
EUR 622 |
|
Description: Sheep polyclonal Fibrinopeptide A antibody (HRP) conjugated |
) CD43 antibody (FITC) |
|
61R-1081 |
Fitzgerald |
100 ug |
EUR 284 |
|
Description: Rat monoclonal CD43 antibody (FITC) |
) Chicken anti Rat IgG (H + L) |
|
41R-1081 |
Fitzgerald |
2 mg |
EUR 224 |
|
Description: Chicken anti Rat IgG (H + L) secondary antibody |
 Anti-HCG-alpha Antibody Clone HCGa/53, Unconjugated-100ug |
|
1081-MSM1-P1 |
EnQuireBio |
100ug |
EUR 428 |
 Anti-HCG-alpha Antibody Clone SPM552, Unconjugated-100ug |
|
1081-MSM1X-P1 |
EnQuireBio |
100ug |
EUR 428 |
 Anti-LH, alpha Antibody Clone LHa/756, Unconjugated-20ug |
|
1081-MSM2-P0 |
EnQuireBio |
20ug |
EUR 233 |
 Anti-LH, alpha Antibody Clone LHa/756, Unconjugated-100ug |
|
1081-MSM2-P1 |
EnQuireBio |
100ug |
EUR 428 |
-MC-Vc-PAB-DMEA-(PEG2)-duocarmycin SA ADC) Anti-EPCAM (Citatuzumab bogatox)-MC-Vc-PAB-DMEA-(PEG2)-duocarmycin SA ADC |
|
ADC-W-1081 |
Creative Biolabs |
1mg |
Ask for price |
|
Description: This ADC product is comprised of an anti-EPCAM monoclonal antibody conjugated via a MC-Vc-PAB-DMEA-(PEG2) linker to duocarmycin SA |
 Human ?2 macroglobulin precursor,pre-?2 MG ELISA Kit |
|
201-12-1081 |
SunredBio |
96 tests |
EUR 440 |
|
|
|
Description: A quantitative ELISA kit for measuring Human in samples from biological fluids. |
Moreover, it is thought to function in vesicle mediated transport and sorting of proteins within the cell. The mechanism by which abnormalities of the VPS13B protein lead to the phenotype of CS is currently unknown.
Here, in this study, we successfully established a clinical diagnosis of CS cases from a family using genomic analyses. Clinical re-examination of the patients revealed characteristic ocular abnormalities.
 [His])