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Cohen syndrome

  • COH1
  • VPS13B (yeast vacuolar protein sorting 13 homolog, VPS13)
Cohen syndrome is a rare developmental disorder with a relatively homogenous phenotype in Finnish individuals, including childhood hypotonia and psychomotor retardation, obesity, lax joints, progressive myopia, other eye abnormalities, intermittent neutropenia, and characteristic facial appearance. In Non-Finnish individuals, there is significant phenotypic variability.

Cohen syndrome analysis of the COH1 gene is offered for Finnish and Non-Finnish patients. For individuals of Finnish descent, sequence analysis of exon 23 is performed to evaluate for the common 2bp deletion (denoted c.3348_3349delCT), which accounts for 75% of mutant alleles. Sequence analysis of the remainder of the gene is available, if necessary. For individuals of Non-Finnish ancestry, we offer bi-directional sequencing of the entire coding region of the COH1 gene (exons 1-62), which is expected to identify COH1 mutations in ~76% of patients with classical Cohen syndrome.

Testing is performed on genomic DNA obtained from a venous blood sample (1-5mL in EDTA) or from buccal brushes (GeneDx kits only). Carrier testing of relatives and prenatal diagnosis in at-risk pregnancies is available once the mutations in a family have been defined.

Information Sheet, including prices and CPT codes Back to the List
Consent Document  
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options  
Cohen syndrome; CS; Pepper Syndrome; CHS1; COH1; vacuolar protein sorting; Finnish; Non-Finnish; founder effect; deletion; developmental delay, psychomotor retardation; dysmorphic; face; hypotonia; lax joints; eye; myopia; retinochoroidal dystrophy; neutropenia; obesity

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