Neurovyvojová porucha s mentální retardací spojená s genem PPP2R5D: první případ v České republice.

• Title in English: Neurodevelopmental disorder with mental retardation associated with the PPP2R5D gene: the first case in the Czech Republic.
• Authors: SLABÁ Kateřina; NOSKOVÁ Hana; VESELÁ Petra; SLABÝ Ondřej; AULICKÁ Štefánia; KONEČNÁ Petra; JABANDŽIEV Petr; PROCHÁZKOVÁ Dagmar
• Year of publication: 2020
• Type: Conference abstract
• MU Faculty or unit: Faculty of Medicine
• Description: The authors describe the first Czech patient with a neurodevelopmental disorder associated with the PPP2R5D gene. The disorder manifested as early as neonatal convulsions, central hypotonic syndrome, severe mental retardation with developmental dysphasia, macrocephaly, strabismus, stigmatization and hypoglycemia. Using whole exome sequencing (WES), we identified a heterozygous variant of c.592G> A / p.E198K in the PPP2R5D gene.