COHEN SYNDROME GENE ASSIGNED TO THE LONG ARM OF CHROMOSOME-8 BY LINKAGE ANALYSIS

Cohen syndrome is an autosomal recessive disorder characterized by men tal and motor retardation, short stature, microcephaly, several dysmor phic features, major ocular symptoms and granulocytopenia. Major resea rch challenges are the confusing nosology and the pleiotropy of the ge ne. We report the mapping of a locus (CHS1) by linkage analysis in as few as four two-generation pedigrees with uniform clinical features. C HS1 was assigned to an interval of approximately 10 cM between D8S270 and D8S521. Our results provide a tool to a more accurate definition o f Cohen syndrome(s) and a starting point for the positional cloning of CHS1.