Linking chromosome 22 to increased risk of bladder exstrophy

Published: 2019-05-02

The bladder exstrophy‐epispadias complex (BEEC) is a malformation of the bladder and urethra in newborns. The underlying causes are still largely unknown but are thought to be genetic except for certain environmental factors. The most common genetic aberration is found on chromosome 22 in a location called 22q11.2.

In a recent study, facilitated by the National Genomics Infrastructure (NGI) at SciLifeLab, researchers analyzed 76 swedish BEEC patients and identified three additional cases with genetic aberrations on 22q11.2 strengthening its potential involvement in BEEC. They also identified a novel mutation of the LZTR1 gene that could be a new candidate gene connected to the underlying causes of the urogenital malformation.