Cohen syndrome: Difference between revisions
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==Pathophysiology== | ==Pathophysiology== | ||
Cohen syndrome has an [[autosome|autosomal]] [[recessive]] transmission with variable expression.<ref name="pmid11477603">{{cite journal |author=Kivitie-Kallio S, Norio R |title=Cohen syndrome: essential features, natural history, and heterogeneity |journal=Am. J. Med. Genet. |volume=102 |issue=2 |pages=125-35 |year=2001 |pmid=11477603}}</ref> | Cohen syndrome has an [[autosome|autosomal]] [[recessive]] transmission with variable expression.<ref name="pmid11477603">{{cite journal |author=Kivitie-Kallio S, Norio R |title=Cohen syndrome: essential features, natural history, and heterogeneity |journal=Am. J. Med. Genet. |volume=102 |issue=2 |pages=125-35 |year=2001 |pmid=11477603}}</ref> It is believed to be a [[gene]] [[mutation]] at locus 8q22 gene [[COH1]].<ref name="pmid12730828">{{cite journal |author=Kolehmainen J, Black GC, Saarinen A, ''et al'' |title=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 |journal=Am. J. Hum. Genet. |volume=72 |issue=6 |pages=1359-69 |year=2003 |pmid=12730828 |url=http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=12730828}}</ref> | ||
==Diagnosis== | ==Diagnosis== | ||
Revision as of 17:10, 29 July 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Pepper syndrome, Cervenka syndrome, Hypotonia obesity and prominent incisors, Norio syndrome, Obesity-hypotonia syndrome, Prominent incisors-obesity-hypotonia syndrome
Overview
Cohen syndrome is characterized by obesity, mental retardation and craniofacial dysmorphism.
Historical Perspective
Cohen syndrome named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness.
Pathophysiology
Cohen syndrome has an autosomal recessive transmission with variable expression.[1] It is believed to be a gene mutation at locus 8q22 gene COH1.[2]
Diagnosis
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.
External links
References
- ↑ Kivitie-Kallio S, Norio R (2001). "Cohen syndrome: essential features, natural history, and heterogeneity". Am. J. Med. Genet. 102 (2): 125–35. PMID 11477603.
- ↑ 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. PMID 12730828.