JBCGenetics |

Case Report

Volume: 1 | Issue: 1 | Published: Jan 01, 2018 | Pages: 47 - 50 | DOI: 10.24911/JBCGenetics/183-1532438227

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

Authors: Hind AlMaghthawi , Marwan Nashabat , Majid Alfadhel

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

Marwan Nashabat

Majid Alfadhel

Publication History

Received: November 12, 2017

Revised: December 02, 2017

Accepted: December 22, 2017

Published: January 01, 2018

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