Abstract: Objective? To?explore?the?clinical?and?genetic?variation?characteristics?of?Cohen?syndrome.?Methods The clinical?data?and?molecular?genetic?test?results?of?Cohen?syndrome?in?a?child?were?retrospectively?analyzed,?and?the?related? literature?was?reviewed.?Results? A?1-year-?and?3-month-old?boy?visited?for?psychomotor?retardation.?He?presented?with?thick? hair,?hypertelorism,?down-slanting?palpebral?fissures,?short?philtrum,?a?short?upper?lip,?hyperlinear?and?single?transverse?palmar? creases,?joint?hypermobility,?hypotonia?and?neutropenia.?Brain?magnetic?resonance?imaging?showed?bilateral?ventricles?enlarged? and?extracerebral?spaces?widened.?Gene?detection?showed?compound?heterozygous?variants?of?c.3863delC?(p.T1288fs)?and? c.5082delT?(p.S1694fs)?in?VPS13B?gene,?which?came?from?parents?with?normal?phenotype.?The?variation?was?predicted?to?be? pathogenic?by?related?software,?and?they?have?not?been?reported.?Conclusions? The?child?was?diagnosed?with?Cohen?syndrome,? and the VPS13B?gene?variant?spectrum?in?Cohen?syndrome?patients?was?expanded.

Key words: 　Cohen syndrome; VPS13B?gene;? variation