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Gene Review

VPS13B  -  vacuolar protein sorting 13 homolog B (yeast)

Homo sapiens

Synonyms: CHS1, COH1, Cohen syndrome protein 1, KIAA0532, Vacuolar protein sorting-associated protein 13B
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Disease relevance of VPS13B


Psychiatry related information on VPS13B

  • Cohen syndrome is an autosomal recessive disorder characterized by mental retardation, microcephalia and typical craniofacial features, myopia and chorioretinal dystrophy [6].
  • Cognitive, language, and adaptive behavior profiles in individuals with a diagnosis of Cohen syndrome [7].
  • Here, we report an 18-year-old male with Cohen syndrome associated with focal polymicrogyria and continuous spike-and-wave discharges during slow-wave sleep [8].
  • The present investigation of 45 individuals with Cohen Syndrome (age 4-48 years) found that, although 57% of the sample were reported as showing some behavioural disturbance, problems related mainly to anxiety and social interactions; marked anti-social behaviours were rare [9].

High impact information on VPS13B

  • Our results provide a tool to a more accurate definition of Cohen syndrome(s) and a starting point for the positional cloning of CHS1 [1].
  • Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis [1].
  • This study provides a molecular confirmation of the clinical phenotype associated with Cohen syndrome and provides a basis for laboratory screening that will be valuable in its diagnosis [2].
  • We have refined the critical region on chromosome 8q22 by haplotype analysis, and we report the characterization of a novel gene, COH1, that is mutated in patients with Cohen syndrome [10].
  • Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport [10].

Chemical compound and disease context of VPS13B


Biological context of VPS13B


Anatomical context of VPS13B


Associations of VPS13B with chemical compounds

  • A particulate fraction of a lysate of wild-type strain GBS COH1 mediated the transfer of galactose from UDP-galactose to an endogenous acceptor [22].
  • Forty-five per cent of the input inoculum of COH1, a virulent GBS isolate, adhered to fibronectin immobilized on polystyrene [23].
  • The specific biosynthetic defect in mutant strain COH1-11 was found to be in the activation of free sialic acid to CMP-sialic acid: CMP-sialic acid synthetase activity was present in the wild-type strain COH1 but was not detected in the asialo mutant strain COH1-11 [24].
  • COH-1 infection of HUVE cells caused the release of lactate dehydrogenase activity [25].
  • C3 fragments released by methylamine treatment of wild-type strain COH1 were predominantly in the form of C3bi, while those released from the acapsular mutant were predominantly C3b and those from the asialo mutant represented approximately equal amounts of C3b and C3bi [26].

Regulatory relationships of VPS13B


Other interactions of VPS13B


Analytical, diagnostic and therapeutic context of VPS13B

  • It shows similarities to Bardet-Biedl syndrome and Cohen syndrome, but can be distinguished by clinical features; the age of onset and nonprogressive nature of the visual impairment, the lack of characteristic facies, skin or gingival infection, microcephaly, 'mottled retina', polydactyly and small penis without testicular anomalies [33].
  • Two fragments (approx. 600 bp; CHS1 and CHS2) were amplified from B. cinerea genomic DNA using degenerate PCR primers based on regions of complete amino acid homology between previously published chitin synthase gene sequences [34].
  • Linkage mapping confirmed that CHS1, CHS3, CHS4, dCHS1, and the I locus are located at the same position in molecular linkage group (MLG) A2 [35].
  • The administration of general anesthesia in patients with Cohen syndrome can be a challenge because most of these patients are mentally retarded and uncooperative and have facial malformations that may make intubation difficult [36].
  • Two acridone synthase cDNAs (ACS1 and ACS2) have been cloned from Ruta cell cultures, and we report now the cloning of three chalcone synthase cDNAs (CHS1 to CHS3) from immature Ruta flowers [37].


  1. Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. Tahvanainen, E., Norio, R., Karila, E., Ranta, S., Weissenbach, J., Sistonen, P., de la Chapelle, A. Nat. Genet. (1994) [Pubmed]
  2. Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. Kolehmainen, J., Wilkinson, R., Lehesjoki, A.E., Chandler, K., Kivitie-Kallio, S., Clayton-Smith, J., Träskelin, A.L., Waris, L., Saarinen, A., Khan, J., Gross-Tsur, V., Traboulsi, E.I., Warburg, M., Fryns, J.P., Norio, R., Black, G.C., Manson, F.D. Am. J. Hum. Genet. (2004) [Pubmed]
  3. Exclusion mapping of the Cohen syndrome gene from the Prader-Willi syndrome locus. Kondo, I., Hamabe, J., Yamamoto, K., Niikawa, N. Clin. Genet. (1990) [Pubmed]
  4. Tapetoretinal degeneration in brothers with apparent Cohen syndrome: nosology with Mirhosseini-Holmes-Walton syndrome. Steinlein, O., Tariverdian, G., Boll, H.U., Vogel, F. Am. J. Med. Genet. (1991) [Pubmed]
  5. Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. Karim, M.A., Nagle, D.L., Kandil, H.H., Bürger, J., Moore, K.J., Spritz, R.A. Hum. Mol. Genet. (1997) [Pubmed]
  6. Granulocytopenia in Cohen syndrome. Kivitie-Kallio, S., Rajantie, J., Juvonen, E., Norio, R. Br. J. Haematol. (1997) [Pubmed]
  7. Cognitive, language, and adaptive behavior profiles in individuals with a diagnosis of Cohen syndrome. Karpf, J., Turk, J., Howlin, P. Clin. Genet. (2004) [Pubmed]
  8. Focal polymicrogyria, continuous spike-and-wave discharges during slow-wave sleep and Cohen syndrome: a case report. Coppola, G., Federico, R.R., Epifanio, G., Tagliente, F., Bravaccio, C. Brain Dev. (2003) [Pubmed]
  9. Behavioural characteristics and autistic features in individuals with Cohen Syndrome. Howlin, P., Karpf, J., Turk, J. European child & adolescent psychiatry. (2005) [Pubmed]
  10. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Kolehmainen, J., Black, G.C., Saarinen, A., Chandler, K., Clayton-Smith, J., Träskelin, A.L., Perveen, R., Kivitie-Kallio, S., Norio, R., Warburg, M., Fryns, J.P., de la Chapelle, A., Lehesjoki, A.E. Am. J. Hum. Genet. (2003) [Pubmed]
  11. Interleukin-6 production by human neonatal monocytes stimulated by type III group B streptococci. Vallejo, J.G., Baker, C.J., Edwards, M.S. J. Infect. Dis. (1996) [Pubmed]
  12. The Cohen syndrome. Retinal lesions and granulocytopenia. Warburg, M., Pedersen, S.A., Hørlyk, H. Ophthalmic paediatrics and genetics. (1990) [Pubmed]
  13. Refined mapping of the Cohen syndrome gene by linkage disequilibrium. Kolehmainen, J., Norio, R., Kivitie-Kallio, S., Tahvanainen, E., de la Chapelle, A., Lehesjoki, A.E. Eur. J. Hum. Genet. (1997) [Pubmed]
  14. A glutamine transport gene, glnQ, is required for fibronectin adherence and virulence of group B streptococci. Tamura, G.S., Nittayajarn, A., Schoentag, D.L. Infect. Immun. (2002) [Pubmed]
  15. Herpesvirus saimiri-transformed CD8+ T cells as a tool to study Chediak-Higashi syndrome cytolytic lymphocytes. Martín-Fernández, J.M., Cabanillas, J.A., Rivero-Carmena, M., Lacasa, E., Pardo, J., Anel, A., Ramírez-Duque, P.R., Merino, F., Rodríguez-Gallego, C., Regueiro, J.R. J. Leukoc. Biol. (2005) [Pubmed]
  16. Sexual development in a girl with Cohen syndrome. de Toni, T., Cafiero, V. J. Pediatr. (1982) [Pubmed]
  17. Enhanced expression and differential inducibility of soybean chalcone synthase genes by supplemental UV-B in dark-grown seedlings. Shimizu, T., Akada, S., Senda, M., Ishikawa, R., Harada, T., Niizeki, M., Dube, S.K. Plant Mol. Biol. (1999) [Pubmed]
  18. Increased neutrophil adhesive capability in Cohen syndrome, an autosomal recessive disorder associated with granulocytopenia. Olivieri, O., Lombardi, S., Russo, C., Corrocher, R. Haematologica (1998) [Pubmed]
  19. MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly. Kivitie-Kallio, S., Autti, T., Salonen, O., Norio, R. Neuropediatrics. (1998) [Pubmed]
  20. Identification of a novel lipopolysaccharide-inducible gene with key features of both A kinase anchor proteins and chs1/beige proteins. Wang, J.W., Howson, J., Haller, E., Kerr, W.G. J. Immunol. (2001) [Pubmed]
  21. Roles of the bacterial cell wall and capsule in induction of tumor necrosis factor alpha by type III group B streptococci. Vallejo, J.G., Baker, C.J., Edwards, M.S. Infect. Immun. (1996) [Pubmed]
  22. Identification of cpsD, a gene essential for type III capsule expression in group B streptococci. Rubens, C.E., Heggen, L.M., Haft, R.F., Wessels, M.R. Mol. Microbiol. (1993) [Pubmed]
  23. Group B streptococci adhere to a variant of fibronectin attached to a solid phase. Tamura, G.S., Rubens, C.E. Mol. Microbiol. (1995) [Pubmed]
  24. Identification of a genetic locus essential for capsule sialylation in type III group B streptococci. Wessels, M.R., Haft, R.F., Heggen, L.M., Rubens, C.E. Infect. Immun. (1992) [Pubmed]
  25. Group B streptococci invade endothelial cells: type III capsular polysaccharide attenuates invasion. Gibson, R.L., Lee, M.K., Soderland, C., Chi, E.Y., Rubens, C.E. Infect. Immun. (1993) [Pubmed]
  26. Prevention of C3 deposition by capsular polysaccharide is a virulence mechanism of type III group B streptococci. Marques, M.B., Kasper, D.L., Pangburn, M.K., Wessels, M.R. Infect. Immun. (1992) [Pubmed]
  27. Cohen syndrome with neutropenia-induced periodontitis managed with granulocyte colony-stimulating factor (G-CSF): case reports. Seow, W.K., Bartold, P.M., Thong, Y.H., Taylor, K. Pediatric dentistry. (1998) [Pubmed]
  28. Monocytes stimulated with group B streptococci or interferons release tumour necrosis factor-related apoptosis-inducing ligand. Halaas, Ø., Liabakk, N.B., Vik, R., Beninati, C., Henneke, P., Sundan, A., Espevik, T. Scand. J. Immunol. (2004) [Pubmed]
  29. DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. Gillessen-Kaesbach, G., Gross, S., Kaya-Westerloh, S., Passarge, E., Horsthemke, B. J. Med. Genet. (1995) [Pubmed]
  30. Growth hormone deficiency in a girl with the Cohen syndrome. Massa, G., Dooms, L., Vanderschueren-Lodeweyckx, M. J. Med. Genet. (1991) [Pubmed]
  31. Ophthalmologic findings in Cohen syndrome. A long-term follow-up. Kivitie-Kallio, S., Summanen, P., Raitta, C., Norio, R. Ophthalmology (2000) [Pubmed]
  32. An integrated physical map of 8q22-q24: use in positional cloning and deletion analysis of Langer-Giedion syndrome. Hilton, M.J., Gutiérrez, L., Zhang, L., Moreno, P.A., Reddy, M., Brown, N., Tan, Y., Hill, A., Wells, D.E. Genomics (2001) [Pubmed]
  33. MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34. Hampshire, D.J., Ayub, M., Springell, K., Roberts, E., Jafri, H., Rashid, Y., Bond, J., Riley, J.H., Woods, C.G. Eur. J. Hum. Genet. (2006) [Pubmed]
  34. Characterization of chitin synthase from Botrytis cinerea. Causier, B.E., Milling, R.J., Foster, S.G., Adams, D.J. Microbiology (Reading, Engl.) (1994) [Pubmed]
  35. Molecular linkage mapping and phylogeny of the chalcone synthase multigene family in soybean. Matsumura, H., Watanabe, S., Harada, K., Senda, M., Akada, S., Kawasaki, S., Dubouzet, E.G., Minaka, N., Takahashi, R. Theor. Appl. Genet. (2005) [Pubmed]
  36. The anesthetic management of a patient with Cohen syndrome. Meng, L., Quinlan, J.J., Sullivan, E. Anesth. Analg. (2004) [Pubmed]
  37. Specificities of functionally expressed chalcone and acridone synthases from Ruta graveolens. Springob, K., Lukacin, R., Ernwein, C., Gröning, I., Matern, U. Eur. J. Biochem. (2000) [Pubmed]
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