Cytogenetic location: 12q13-q21 Genomic coordinates (GRCh38): 12:46,000,001-92,200,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 12q13-q21 | Enuresis, nocturnal, 2 | 600808 | Autosomal dominant | 2 |
For a general description and a discussion of genetic heterogeneity of nocturnal enuresis, see 600631.
In 11 2- and 3-generation Swedish families segregating for primary nocturnal enuresis diagnosed by stringent criteria, Dahl et al. (1995) conducted an analysis of linkage assuming autosomal dominant inheritance with penetrance of 0.90 in both sexes, and under the hypothesis of heterogeneity. In 5 families, a cumulative and significant 2-point linkage was shown with 2 markers, D12S80 and D12S43, located at 12q13-q21; maximum lod = 4.27 at theta = 0.01, and 3.00 at theta = 0.01, respectively. In 5 families, linkage to this region was excluded, supporting genetic heterogeneity.
In a continuation of the Swedish multicenter study (Dahl et al., 1995), Arnell et al. (1997) studied sixteen 2- and 3-generation families showing a dominant pattern of inheritance of PNE. Arnell et al. (1997) showed linkage to D12S80 (Zmax = 4.2) under 2-point linkage analysis in 6 families. Multipoint analysis produced Zmax = 3.88 2.2 cM telomeric of D12S80, localizing ENUR2 between D12S80 and D12S81 within a region restricted by recombination at D12S368 and D12S101.
Arnell, H., Hjalmas, K., Jagervall, M., Lackgren, G., Stenberg, A., Bengtsson, B., Wassen, C., Emahazion, T., Anneren, G., Pettersson, U., Sundvall, M., Dahl, N. The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q. J. Med. Genet. 34: 360-365, 1997. [PubMed: 9152831] [Full Text: https://doi.org/10.1136/jmg.34.5.360]
Dahl, N., Arnell, H., Hjalmaas, K., Jagervall, M., Lackgren, G., Stenberg, A., Bengtsson, B., Wassen, C., Emahazion, T., Anneren, G., Pettersson, U., Sundvall, M. Primary nocturnal enuresis: linkage to chromosome 12q and evidence for genetic heterogeneity. (Abstract) Am. J. Hum. Genet. 57: A190 only, 1995.