Background: PPM1D gene encodes for metal-dependent protein phosphatase. Its function includes the inhibition of some tumor suppressor genes, DNA damage response, and cell cycle control. Germline heterozygous de novo mutations in this gene were reported to cause intellectual disability and hypotonia.
Case Presentation: We report a 40-month-old girl with an intractable seizure disorder, microcephaly, and global developmental delay. She had frequent epileptiform discharges on electroencephalography. Molecular investigations showed a homozygous truncating mutation in the PPM1D gene. Both parents were healthy heterozygous carriers.
Conclusion: This is the first time in the literature to describe a homozygous biallelic mutation in the PPM1D gene, which resulted in epileptic encephalopathy, microcephaly, and global developmental delay. PPM1D mutations could be inherited as autosomal recessive with asymptomatic heterozygote carriers.
PPM1D, phosphatase, epileptic encephalopathy, intellectual disability
Social skills and psychopathology are associated with autonomic function in children: a cross-sectional observational study.
Cainelli E, Vedovelli L, Bottigliengo D, Boschiero D, Suppiej A
Neural regeneration research. 2022; 17(4): 920-928
Challenges in developing therapeutic strategies for mild neonatal encephalopathy.
McDouall A, Wassink G, Bennet L, Gunn AJ, Davidson JO
Neural regeneration research. 2022; 17(2): 277-282
Potential use of lactate for the treatment of neonatal hypoxic-ischemic encephalopathy.
Tassinari ID, de Fraga LS
Neural regeneration research. 2022; 17(4): 788-790
Positron emission tomography imaging for the assessment of mild traumatic brain injury and chronic traumatic encephalopathy: recent advances in radiotracers.
Huang CX, Li YH, Lu W, Huang SH, Li MJ, Xiao LZ, Liu J
Neural regeneration research. 2022; 17(1): 74-81
Loss of protein tyrosine phosphatase non-receptor type 2 reduces IL-4-driven alternative macrophage activation.
Spalinger MR, Crawford M, Bobardt SD, Li J, Sayoc-Becerra A, Santos AN, Shawki A, Chatterjee P, Nair MG, McCole DF
Mucosal immunology. 2021; ():