Early-onset infant epileptic encephalopathy associated with a de novo PPP3CA gene mutation
- 1 Key Laboratory of Birth Defects, Children's Hospital of Fudan University;
- 2 Children's Hospital of Fudan University, The Translational Medicine Center of Children Development and Disease of Fudan University, Key Laboratory of Birth Defects;
- 3 Key Laboratory of Birth Defects, Children's Hospital of Fudan University; Departments of Neonatology;
- 4 Children's Hospital of Fudan University
- ↵* Corresponding author; email: huijunwang{at}fudan.edu.cn
Abstract
Epileptic encephalopathies are severe seizure disorders accompanied by intellectual disability. Whole-exome sequencing technology has enabled the discovery of genetic mutations responsible for a wide range of diseases, and severe epilepsy and neurodevelopmental diseases are often associated with rare de novo mutations. We identified a novel de novo frameshift mutation in the PPP3CA gene encoding calcium-dependent protein phosphatase (calcineurin) catalytic subunit A (c.1255_1256del, p.Ser419Cysfs*31) in an 11.5-month-old female with early-onset refractory epilepsy and developmental delay. This finding expands the list of PPP3CA mutations associated with early-onset severe neurodevelopmental disease with seizures, and provides further details on clinical features.
- Absence seizures with eyelid myoclonia
- Moderate generalized osteoporosis
- Moderate global developmental delay
- Myoclonic atonic seizures
- Received February 26, 2018.
- Accepted August 14, 2018.
- Cold Spring Harbor Laboratory Press
This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License, which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.
