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Case Reports
. 2020 Feb;36(2):179-182.
doi: 10.1007/s12264-019-00430-4. Epub 2019 Sep 17.

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

Yanghui Zhang  1 , Haoxian Li  1 , Hua Wang  1 , Zhengjun Jia  1 , Hui Xi  1 , Xiao Mao  2
Affiliations
Case Reports

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

Yanghui Zhang et al. Neurosci Bull. 2020 Feb.
No abstract available

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Conflict of interest statement

The authors claim no conflicts of interest.

Figures

Fig. 1
Fig. 1
Clinical and genetic data of the patient. A Brain MRI showing agenesis of the corpus callosum (a), enlargement of the ventricular system, and retardation of myelination of the white matter (b). B Brainstem auditory evoked potentials showing that the I, III, and V waves were hardly detectable and the latency to each wave was prolonged on the left side; the waveform of the V wave was poorly differentiated with a normal range of latency to each wave on the right side; the auditory brainstem response thresholds were increased. C EEG demonstrating synchronous discharges of high-amplitude δ-waves spreading from the frontal lobe.
Fig. 2
Fig. 2
Pathogenic variant of PPP2R1A and its protein structure. A The six reported variants (E64K [12], P179L [4], M180T [13], R182W [4], S219L, and R258H [5]) and their relative locations in the causative gene and its encoded protein. We report a likely pathogenic variant at S219 (red). B (a) Structure of PPP2R1A interacting with the regulatory B subunit. (b) Enlargement showing the causative amino-acids located in the center of this interaction.
See this image and copyright information in PMC

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References

    1. Srivastava AK, Schwartz CE. Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms. Neurosci Biobehav Rev. 2014;46(Pt 2):161–174. doi: 10.1016/j.neubiorev.2014.02.015. - DOI - PMC - PubMed
    1. Xu M, Ji Y, Zhang T, Jiang X, Fan Y, Geng J, et al. Clinical application of chromosome microarray analysis in Han Chinese children with neurodevelopmental disorders. Neurosci Bull. 2018;34:981–991. doi: 10.1007/s12264-018-0238-2. - DOI - PMC - PubMed
    1. Vissers LE, Gilissen C, Veltman JA. Genetic studies in intellectual disability and related disorders. Nat Rev Genet. 2016;17:9–18. doi: 10.1038/nrg3999. - DOI - PubMed
    1. Fitzgerald TW, Gerety SS, Jones WD, Kogelenberg MV, King DA, McRae J, et al. Large-scale discovery of novel genetic causes of developmental disorders. Nature 2015, 519: 223–228. - PMC - PubMed
    1. Houge G, Haesen D, Vissers LE, Mehta S, Parker MJ, Wright M, et al. B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. J Clin Invest. 2015;125:3051–3062. doi: 10.1172/JCI79860. - DOI - PMC - PubMed

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