Cohen syndrome
From Wikipedia, the free encyclopedia
| Cohen syndrome Classification and external resources |
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| OMIM | 216550 |
|---|---|
| DiseasesDB | 29622 |
Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome, named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness) is believed to be a gene mutation at locus 8q22 gene COH1.[1] Cohen syndrome has several characteristics such as obesity, mental retardation and craniofacial dysmorphism. It has an autosomal recessive transmission with variable expression.[2]
Cohen syndrome is diagnosed by clinical examination, but often difficult due to variation in expression.
Ocular complications, though rare, are listed as optic atrophy, microphthalmia, pigmentary chorioretinitis, hemeralopia (decreased vision in bright light), myopia, strabismus, nystagmus and iris/retinal coloboma.
General appearance is obesity with thin/elongated arms and legs. Micrognathia, short philtrum, and high vaulted palate are common. Variable mental retardation with occasional seizure and deafness also is characteristic of Cohen syndrome.
One case of the Cohen Syndrome, in a Palestinian boy from Tul-Karem, was reported in the Israeli monthly Kol Israel BeAsakim (in Hebrew) in the December 2007 issue.
[edit] External links
[edit] References
- ^ Kolehmainen J, Black GC, Saarinen A, et al (2003). "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". Am. J. Hum. Genet. 72 (6): 1359–69. doi:. PMID 12730828.
- ^ Kivitie-Kallio S, Norio R (2001). "Cohen syndrome: essential features, natural history, and heterogeneity". Am. J. Med. Genet. 102 (2): 125–35. doi:. PMID 11477603.
