Cohen syndrome
| Cohen syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 216550 |
| DiseasesDB | 29622 |
| GeneReviews | |
Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome, named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness) is a genetic disorder.
Genetics
This syndrome is believed to be a gene mutation in chromosome 8 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]
Clinical
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. There is evidence to suggest a link between Cohen Syndrome and periodontal disease.[3]
Case reports
One case of 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.
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:10.1086/375454. PMC 1180298. 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:10.1002/1096-8628(20010801)102:2<125::AID-AJMG1439>3.0.CO;2-0. PMID 11477603.
- ↑ Haritha, Avula; Jayakumar, Avula (June 2011). "Syndromes as they relate to periodontal disease". Periodontology 2000 56 (1): 65–86. doi:10.1111/j.1600-0757.2010.00363.x.
External links
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