Am J Med Genet A. 2025 Aug 6:e64217. doi: 10.1002/ajmg.a.64217. Online ahead of print.
ABSTRACT
PPP1R12A-related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate anus without rectal fistula, and vaginal atresia. Brain imaging revealed bilateral periventricular white matter echogenicity, and echocardiography identified a muscular ventricular septal defect. Genetic testing revealed a stop-loss PPP1R12A variant c.3092A>T (p.Ter1031LeuextTer71), identical to the variant reported in a previous case by Harris et al., which also presented with jejunal atresia. This case represents an additional case of UBMS with gastrointestinal anomalies and the second documented instance of small intestinal atresia associated with the c.3092A>T variant in PPP1R12A, suggesting an expansion of the phenotype with gastrointestinal atresia. While brain and urogenital malformations are the hallmark features of UBMS, this case highlights gastrointestinal anomalies as an important part of the phenotypic spectrum.
PMID:40770999 | DOI:10.1002/ajmg.a.64217
