A De Novo Variant Identified in the PPP2R1A Gene in an Infant Induces Neurodevelopmental Abnormalities

  • Yanghui Zhang
  • Haoxian Li
  • Hua Wang
  • Zhengjun Jia
  • Hui Xi
  • Xiao MaoEmail author
Letter to the Editor

Dear Editor,

Neurodevelopmental disorders include a wide range of conditions such as epilepsy, intellectual disability, and autism spectrum disorder. These disorders commonly co-occur in patients, which suggests that they share a common etiology [1, 2]. Genetic advances resulting from sequencing techniques over the past few years have greatly expanded our understanding of neurodevelopmental disorders. Numerous specific genes have been identified in patients with neurodevelopmental disorders that have pedigrees with Mendelian inheritance [3]. However, the majority of patients with neurodevelopmental disorders of possible genetic causes remain without specific diagnoses. The clinical heterogeneity and low incidence rate of these undefined disorders present a challenge for determining genetic diagnoses. Recently, using an unbiased genotype-driven approach, the United Kingdom Deciphering Developmental Disorders project has identified a total of 12 novel genes that have been suggested to...



This work was supported by the Science and Technology Department of Hunan Province, China (2017JJ3142).

Conflict of interest

The authors claim no conflicts of interest.


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Copyright information

© Shanghai Institutes for Biological Sciences, CAS 2019

Authors and Affiliations

  1. 1.National Health Commission Key Laboratory of Birth Defects Research, Prevention and TreatmentHunan Provincial Maternal and Child Health Care HospitalChangshaChina

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