PT  - JOURNAL ARTICLE
AU  - H Arnell
AU  - K Hjälmås
AU  - M Jägervall
AU  - G Läckgren
AU  - A Stenberg
AU  - B Bengtsson
AU  - C Wassén
AU  - T Emahazion
AU  - G Annerén
AU  - U Pettersson
AU  - M Sundvall
AU  - N Dahl
TI  - The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q.
AID  - 10.1136/jmg.34.5.360
DP  - 1997 May 01
TA  - Journal of Medical Genetics
PG  - 360--365
VI  - 34
IP  - 5
4099  - http://jmg.bmj.com/content/34/5/360.short
4100  - http://jmg.bmj.com/content/34/5/360.full
SO  - J Med Genet1997 May 01; 34
AB  - Primary nocturnal enuresis (PNE), or bedwetting at night, affects approximately 10% of 6 year old children. Genetic components contribute to the pathogenesis and recently one locus was assigned to chromosome 13q. We evaluated the genetic factors and the pattern of inheritance for PNE in 392 families. Dominant transmission was observed in 43% and an apparent recessive mode of inheritance was observed in 9% of the families. Among the 392 probands the ratio of males to females was 3:1 indicating sex linked or sex influenced factors. Linkage to candidate regions was tested in 16 larger families segregating for autosomal dominant PNE. A gene for PNE was excluded from chromosome 13q in 11 families, whereas linkage to the interval D13S263-D13S291 was suggested (Zmax = 2.1) in three families. Further linkage analyses excluded about 1/3 of the genome at a 10 cM resolution except the region around D12S80 on chromosome 12q that showed a positive two point lod score in six of the families (Zmax = 4.2). This locus remains suggestive because the material was not sufficiently large to give evidence for heterogeneity. Our pedigree analysis indicates that major genes are involved in a large proportion of PNE families and the linkage results suggest that such a gene is located on chromosome 12q.