Molecular genetics of nocturnal enuresis: clinical and genetic heterogeneity

Forty-two children with nocturnal enuresis (27 with primary, 4 with secondary nocturnal enuresis and 11 with combined primary nocturnal enuresis and daytime wetting) were selected retrospectively from a study of 167 consecutive children with enuresis. The aim of the study was to collect formal genetic data, perform molecular genetic linkage-analyses with five microsatellite markers on chromosomes 13q, 12q or 8q and specify the associations between genetic findings and clinical, as well as psychiatric diagnoses. Positive linkage of nocturnal enuresis to one of the microsatellite markers was possible in 27 children from 23 families and was not possible in 15 children. Somatic findings in both the groups with and without possible assignment of nocturnal enuresis to a marker were heterogeneous. Psychiatrically, a low rate of behavioural problems was apparent. These findings support the hypothesis of genetic and phenotypical heterogeneity of nocturnal enuresis, without linkage of specific psychiatric and somatic phenotypes to certain chromosome markers.