Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report

Hind AlMaghthawi; Marwan Nashabat; Majid Alfadhel

doi:10.24911/JBCGenetics/183-1532438227

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Case Report
Online Published: 01 Jan 2018

JBCGenetics. 2018; 1(1): 47-50

doi: 10.24911/JBCGenetics/183-1532438227

Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report

Hind AlMaghthawi, Marwan Nashabat, Majid Alfadhel.

Abstract
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.

Key words: PPM1D, phosphatase, epileptic encephalopathy, intellectual disability

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Pubmed Style

AlMaghthawi H, Nashabat M, Alfadhel M. Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report. JBCGenetics. 2018; 1(1): 47-50. doi:10.24911/JBCGenetics/183-1532438227

Web Style

AlMaghthawi H, Nashabat M, Alfadhel M. Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report. https://www.jbcgenetics.com/?mno=1454 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1532438227

AMA (American Medical Association) Style

AlMaghthawi H, Nashabat M, Alfadhel M. Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report. JBCGenetics. 2018; 1(1): 47-50. doi:10.24911/JBCGenetics/183-1532438227

Vancouver/ICMJE Style

AlMaghthawi H, Nashabat M, Alfadhel M. Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report. JBCGenetics. (2018), [cited November 14, 2024]; 1(1): 47-50. doi:10.24911/JBCGenetics/183-1532438227

Harvard Style

AlMaghthawi, H., Nashabat, . M. & Alfadhel, . M. (2018) Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report. JBCGenetics, 1 (1), 47-50. doi:10.24911/JBCGenetics/183-1532438227

Turabian Style

AlMaghthawi, Hind, Marwan Nashabat, and Majid Alfadhel. 2018. Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report. Journal of Biochemical and Clinical Genetics, 1 (1), 47-50. doi:10.24911/JBCGenetics/183-1532438227

Chicago Style

AlMaghthawi, Hind, Marwan Nashabat, and Majid Alfadhel. "Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report." Journal of Biochemical and Clinical Genetics 1 (2018), 47-50. doi:10.24911/JBCGenetics/183-1532438227

MLA (The Modern Language Association) Style

AlMaghthawi, Hind, Marwan Nashabat, and Majid Alfadhel. "Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report." Journal of Biochemical and Clinical Genetics 1.1 (2018), 47-50. Print. doi:10.24911/JBCGenetics/183-1532438227

APA (American Psychological Association) Style

AlMaghthawi, H., Nashabat, . M. & Alfadhel, . M. (2018) Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report. Journal of Biochemical and Clinical Genetics, 1 (1), 47-50. doi:10.24911/JBCGenetics/183-1532438227

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