Nida S Iqbal, Thomas A Jascur, Steven M Harrison, Angelena B Edwards, Luke T Smith, Erin S Choi, Michelle K Arevalo, Catherine Chen, Shaohua Zhang, Adam J Kern, Angela E Scheuerle, Emma J Sanchez, Chao Xing, Linda A Baker
BACKGROUND: Prune belly syndrome (PBS) is a rare, multi-system congenital myopathy primarily affecting males that is poorly described genetically. Phenotypically, its morbidity spans from mild to lethal, however, all isolated PBS cases manifest three cardinal pathological features: 1) wrinkled flaccid ventral abdominal wall with skeletal muscle deficiency, 2) urinary tract dilation with poorly contractile smooth muscle, and 3) intra-abdominal undescended testes. Despite evidence for a genetic basis, previously reported PBS autosomal candidate genes only account for one consanguineous family and single cases...
February 21, 2020: BMC Medical Genetics