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Assignment of dominant inherited nocturnal enuresis (ENUR1) to chromosome 13q
1University Institute of Medical Biochemistry & Genetics, Department of Medical Genetics, Danish Centre for Genome Research, Copenhagen, Denmark.
Insights
Nocturnal enuresis (bedwetting) in children over seven often has a genetic basis. Researchers found strong evidence linking primary nocturnal enuresis to chromosome 13q13-q14.3.
Area of Science:
- Genetics
- Pediatrics
- Urology
Background:
- Nocturnal enuresis affects 10% of children over seven, impacting social adjustment and general practice.
- Primary nocturnal enuresis (PEN1) has a 15% annual spontaneous cure rate, with few cases persisting past age 16.
- Two types exist: primary (always present) and secondary (recurrence after dryness).
Purpose of the Study:
- To investigate the genetic basis of nocturnal enuresis.
- To identify potential genetic markers and chromosomal locations associated with primary nocturnal enuresis.
Main Methods:
- Studied 400 Danish families, identifying 17 with nocturnal enuresis.
- Analyzed 11 families with primary nocturnal enuresis for inheritance patterns.
- Performed linkage analysis with DNA polymorphisms D13S291 and D13S263.
Main Results:
- Primary nocturnal enuresis in these families demonstrated an autosomal dominant inheritance pattern with over 90% penetrance.
- Strong evidence of genetic linkage was found with DNA markers D13S291 and D13S263.
- Multipoint analysis suggested the disease locus is located on chromosome 13q13-q14.3.
Conclusions:
- Primary nocturnal enuresis exhibits a strong genetic component, likely inherited in an autosomal dominant manner.
- The identified chromosomal region 13q13-q14.3 is a significant target for further research into the genetic underpinnings of bedwetting.
Abstract:
Nocturnal enuresis, or nightly bedwetting in children more than seven years of age affects about 10% of seven-year-old children, with a wide range of frequencies between populations. The affliction is often linked to major social maladjustments and occupies considerable time in general practice. From the age of seven there is a spontaneous cure rate of 15% per year, such that few remain affected after the age of 16 years. There are two types of nocturnal enuresis: type I (PEN1, primary) with at least three nightly episodes in children above seven years, where the child has always had the disorder and type II (secondary) where the child has been dry for at least six months, but enuresis has recurred. Among some 400 Danish, mostly three-generation families, we have found 17 families with nocturnal enuresis. Eleven of these family had type I nocturnal enuresis (PEN1) that appeared to follow an autosomal dominant mode of inheritance with penetrance above 90%. We now describe strong evidence of linkage with the DNA polymorphisms D13S291 (Z = 3.55; theta M = F = 0.07) and D13S263 (Z = 2.67; theta M = F = 0.08). Multipoint analysis indicates that these markers flank the disease locus at chromosome 13q13-q14.3.