Further delineation of PIGB-related early infantile epileptic encephalopathy

We report on a 5 year-old girl born from consanguineous parents, manifesting severe global developmental delay with absent speech, mixed peripheral polyneuropathy, hypotonia, bilateral equino-varo-supinated-cavus foot, early-onset scoliosis, elevated serum alkaline phosphatase and a single episode of febrile status epilepticus. Hypomyelination was documented on brain MRI. Whole-exome sequencing (WES) disclosed the likely pathogenic biallelic PIGB NM_004855.4: c.463G > C, p.(Asp155His) missense variant. In our patient, while other characteristic clinical, neuroimaging and laboratory findings (as described in the first research paper) were present, seizures were not a major clinical issue, thus contributing to our knowledge on this ultra-rare disorder.PMID:34161862 | DOI:10.1016/j.ejmg.2021.104268

Source: European Journal of Medical Genetics - June 23, 2021 Category: Genetics & Stem Cells Authors: Silvia Schiavoni Carlotta Spagnoli Susanna Rizzi Grazia Gabriella Salerno Daniele Frattini Patrizia Bergonzini Francesco Pisani Carlo Fusco Source Type: research