A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2

Fauth, Christine; Steindl, Katharina; Toutain, Annick; Farrell, Sandra; Witsch-Baumgartner, Martina; Karall, Daniela; Joset, Pascal; Böhm, Sebastian; Baumer, Alessandra; Maier, Oliver; Zschocke, Johannes; Weksberg, Rosanna; Marshall, Christian R; Rauch, Anita

doi:10.5167/uzh-117765

Citations

Citation copied

Fauth, C., Steindl, K., Toutain, A., Farrell, S., Witsch-Baumgartner, M., Karall, D., Joset, P., Böhm, S., Baumer, A., Maier, O., Zschocke, J., Weksberg, R., Marshall, C. R., & Rauch, A. (2016). A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. American Journal of Medical Genetics. Part A, 170, 392–402. https://doi.org/10.1002/ajmg.a.37452

Abstract

Hypomorphic germline mutations in the PIGA (phosphatidylinositol glycan class A) gene recently were recognized as the cause of a clinically heterogeneous spectrum of X-linked disorders including (i) early onset epileptic encephalopathy with severe muscular hypotonia, dysmorphism, multiple congenital anomalies, and early death ("MCAHS2"), (ii) neurodegenerative encephalopathy with systemic iron overload (ferro-cerebro-cutaneous syndrome, "FCCS"), and (iii) intellectual disability and seizures without dysmorphism. Previous studies showe