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THE LONG TERM EVOLUTION OF 6 ADULT PATIENTS WITH COHEN SYNDROME AND THEIR BEHAVIORAL CHARACTERISTICS

Summary: The long term evolution of 6 adult patients with Cohen syndrome and their behavioral characteristics: Cohen syndrome is an autosomal recessive, multiple congenital anomalies/mental retardation (MCA/MR) syndrome, caused by a mutation in the COH1 gen, localized on chromosome 8q22. COH1 encodes a transmembrane protein of 4.022 ammo-acids with a presumed role in vesicle-mediated sorting and intracellular protein transport. Clinical features are non progressive psychomotor retardation and microcephaly, characteristic facial features, retinal dystrophy, and intermittent neutropenia. Examination of the long-term evolution of 6 patients with Cohen syndrome shows that the clinical features ...

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