Congenital megabladder (MGBL) is characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with ...
Congenital megabladder (MGBL) is characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, likely the result of differences in urethra and bladder development and length differences in urethra between males and females (Houweling et al., 2019).
▼ Clinical Features
Houweling et al. (2019) studied 3 families with congenital megabladder, including a large 4-generation family (family B) in which 8 males with megabladder died before birth and female obligate carriers were unaffected. In another family (family D), 2 affected males died prenatally and 1 was born with megabladder and agenesis of the right kidney; he developed end-stage renal failure and underwent kidney transplantation. In the third family (family C), megabladder was diagnosed prenatally in the male fetus and the pregnancy was terminated.
Houweling et al. (2019) demonstrated autosomal dominant inheritance of congenital megabladder in 3 families. Incomplete penetrance was suggested in 1 of the families.
▼ Molecular Genetics
In 7 affected males from 3 families with congenital megabladder, Houweling et al. (2019) identified heterozygous mutations in the MYOCD gene (606127.0001-606127.0003). Five unaffected female carriers were also identified in 2 of the families. In addition, 1 unaffected male carrier was detected, suggesting incomplete penetrance.