Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation

Background: The bladder exstrophy-epispadias complex (BEEC) is a spectrum of congenital abnormalities that involves the abdominal wall, bony pelvis, urinary tract, external genitalia, and, in severe cases, gastrointestinal tract as well. Methods: Herein, we performed an exome analysis case-parent trios with cloacal exstrophy (CE), most form BEEC. Furthermore, surveyed sib-pair presenting classic (CBE) and epispadias (E) only. Moreover, large-scale re-sequencing CBE individuals for novel candidate genes were derived from current analysis, well previously reported within phenocritical region, 22q11.2. Results: survey CE identified two harboring de novo variants (NR1H2, GKAP1), four autosomal-recessive biallelic (AKR1B10, CLSTN3, NDST4, PLEKHB1) one gene suggestive uniparental disomy (SVEP1). However, did not identify any additional variant carriers these genes. Analysis affected revealed no gene. Re-sequencing 22q11.2 region highly conserved frameshift led to early termination independent males, LZTR1 (c.978_985del, p.Ser327fster6) SLC7A4 (c.1087delC, p.Arg363fster68). Conclusions: According previous studies, our study further implicates formation. Exome analysis-derived may represent frequent indicator other BEEC phenotypes warrant molecular before their involvement disease formation can be assumed.