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

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

Authors: Hind AlMaghthawi, Marwan Nashabat, Majid Alfadhel.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1532438227

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.

Keywords:   PPM1D, phosphatase, epileptic encephalopathy, intellectual disability


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


Authors
Hind AlMaghthawi
Genetic Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia - Madina Maternity and Children Hospital, Medina, Saudi Arabia
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Marwan Nashabat
Genetic Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia
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Majid Alfadhel
Genetic Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia
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Correspondence to:
. Majid Alfadhel, Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia; dralfadhelm@gmail.com

Publication history
Received 12 Nov 2017
Revised 02 Dec 2017
Accepted 22 Dec 2017
Published in print 01 Jan 2018

How to cite this article

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: December 13, 2018]. 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 December 13, 2018]; 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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