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.

Caspase-1, human recombinant

1081-100
EUR 452.00

Caspase-1, human recombinant

1081-25
EUR 283.00

Chicken anti Rat IgG (H + L)

41R-1081 2 mg
EUR 224.00
Description: Chicken anti Rat IgG (H + L) secondary antibody

17b Boldenone-HRP

80-1081 500 ul
EUR 420.00
Description: 17b-Boldenone 3 Conjugate for use in immunoassays

VAMP8 protein (His tag)

80R-1081 100 ug
EUR 397.00
Description: Purified recombinant Human VAMP8 protein

DsbC protein

30R-1081 100 ug
EUR 224.00
Description: Purified recombinant Human DsbC protein

Bcat1 Blocking Peptide

33R-1081 100 ug
EUR 180.00
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 257.00
Description: Purified native Bovine IgG protein

DMAP1 antibody

20R-1081 100 ug
EUR 377.00
Description: Rabbit polyclonal DMAP1 antibody

Collagen Type VI Alpha 2 antibody

70R-1081 100 ug
EUR 377.00
Description: Rabbit polyclonal Collagen Type VI Alpha 2 antibody raised against the C terminal of COL6A2

Fibrinopeptide A antibody (HRP)

60R-1081 200 ug
EUR 622.00
Description: Sheep polyclonal Fibrinopeptide A antibody (HRP) conjugated

CD43 antibody (FITC)

61R-1081 100 ug
EUR 284.00
Description: Rat monoclonal CD43 antibody (FITC)

ZIKV Envelope protein (Fragment) [His]

DAGA-1081 1 mg
EUR 715.00

Human ?2 macroglobulin precursor,pre-?2 MG ELISA Kit

201-12-1081 96 tests
EUR 440.00
  • This alpha 2 macroglobulin precursor ELISA kit is validated to work with samples from whole blood, serum, plasma and cell culture supernatant.
Description: A quantitative ELISA kit for measuring Human in samples from biological fluids.

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

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

1081-MSM1-P1 100ug
EUR 428.00

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

1081-MSM1X-P1 100ug
EUR 428.00

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

1081-MSM2-P0 20ug
EUR 233.00

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

1081-MSM2-P1 100ug
EUR 428.00

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.