Cohen syndrome
From Wikipedia, the free encyclopedia
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vacuolar protein sorting 13B (yeast)
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| Identifiers | |
| Symbol(s) | VPS13B CHS1, COH1 |
| Entrez | 157680 |
| OMIM | 607817 |
| RefSeq | NM_184042 |
| UniProt | Q7Z7G8 |
| Other data | |
| Locus | Chr. 8 q22-q23 |
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 8q22-23. Cohen syndrome has several characteristics such as obesity, mental retardation and craniofacial dysmorphism. It has a autosomal recessive transmission with variable expression.
Cohen syndrome is diagnosed by clinical examination, but often difficult due to variation in expression.
Ocular complications, though rare, are listed as optic atrophy, microophthalmia, 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.
