Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family.

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 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 1 mg
EUR 257
Description: Purified native Bovine IgG protein

Caspase-1, human recombinant

EUR 452

Caspase-1, human recombinant

EUR 283

CSTB antibody

10R-1081 100 ul
EUR 316
Description: Mouse monoclonal CSTB antibody

Fibrinopeptide A antibody (HRP)

60R-1081 200 ug
EUR 622
Description: Sheep polyclonal Fibrinopeptide A antibody (HRP) conjugated

CD43 antibody (FITC)

61R-1081 100 ug
EUR 284
Description: Rat monoclonal CD43 antibody (FITC)

Chicken anti Rat IgG (H + L)

41R-1081 2 mg
EUR 224
Description: Chicken anti Rat IgG (H + L) secondary antibody

ZIKV Envelope protein (Fragment) [His]

DAGA-1081 1 mg
EUR 715

Anti-HCG-alpha Antibody Clone HCGa/53, Unconjugated-100ug

1081-MSM1-P1 100ug
EUR 428

Anti-HCG-alpha Antibody Clone SPM552, Unconjugated-100ug

1081-MSM1X-P1 100ug
EUR 428

Anti-LH, alpha Antibody Clone LHa/756, Unconjugated-20ug

1081-MSM2-P0 20ug
EUR 233

Anti-LH, alpha Antibody Clone LHa/756, Unconjugated-100ug

1081-MSM2-P1 100ug
EUR 428

Anti-EPCAM (Citatuzumab bogatox)-MC-Vc-PAB-DMEA-(PEG2)-duocarmycin SA ADC

ADC-W-1081 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 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.