Clinical variability of genetic isolates of Cohen syndrome.

[cohen syndrome]

Cohen syndrome (CS ) (OMIM #216550 ) is an uncommon autosomal recessive developmental disorder that has been attributed to mutations in the COH 1 gene in at least 200 patients of diverse ethnic background so far . The clinical heterogeneity of CS is evident when comparing patients of different ethnic backgrounds , especially when evaluating specific system phenotypes separately , such as the ophthalmic and central nervous systems . We reviewed the available clinical data on CS cohorts of patients who share a founder effect and demonstrated that most features associated so far with CS are less than those always present in the patients who share a founder mutation thus representing clinical heterogeneity . Furthermore , there is a wide clinical variability of CS in the distinct founder mutation cohorts , the Finnish , Greek /Mediterranean , Amish and Irish travelers . The Greek /Mediterranean founder mutation is correlated to a CS phenotype characterized by specific and persistent skeletal features , corneal changes , periodontal disease , a distinct neurocognitive phenotype for the high recurrence of autism and non-verbal communication and inconstant microcephaly .