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Liu S, Yan Z, Huang Y, et al. A case of White-Sutton syndrome arising from a maternally-inherited mutation in POGZ. Psychiatr Genet. 2021;31(4):135-139doi: 10.1097/YPG.0000000000000288.
Liu, S., Yan, Z., Huang, Y., Zheng, W., Deng, Y., Zou, Y., & Xie, H. (2021). A case of White-Sutton syndrome arising from a maternally-inherited mutation in POGZ. Psychiatric genetics, 31(4), 135-139. https://doi.org/10.1097/YPG.0000000000000288
Liu, Siqin, et al. "A case of White-Sutton syndrome arising from a maternally-inherited mutation in POGZ." Psychiatric genetics vol. 31,4 (2021): 135-139. doi: https://doi.org/10.1097/YPG.0000000000000288
Liu S, Yan Z, Huang Y, Zheng W, Deng Y, Zou Y, Xie H. A case of White-Sutton syndrome arising from a maternally-inherited mutation in POGZ. Psychiatr Genet. 2021 Aug 01;31(4):135-139. doi: 10.1097/YPG.0000000000000288. PMID: 34133408; PMCID: PMC8265545.
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Psychiatr Genet. 2021 Aug 01;31(4):135-139. doi: 10.1097/YPG.0000000000000288.

A case of White-Sutton syndrome arising from a maternally-inherited mutation in POGZ.

Psychiatric genetics

Siqin Liu, Zhenxing Yan, Yaowei Huang, Wenxia Zheng, Yiting Deng, Yang Zou, Huifang Xie

Affiliations

  1. Department of Neurology, Zhujiang Hospital.
  2. Department of Neurology, Nanfang Hospital.
  3. Department of Neurology, Shunde Hospital, Southern Medical University, Guangzhou City, China.

PMID: 34133408 PMCID: PMC8265545 DOI: 10.1097/YPG.0000000000000288

Abstract

POGZ is located on chromosome 1q21.3, encoding a pogo transposable element-derived protein with a zinc finger cluster. White-Sutton syndrome (WHSUS, OMIM:616364) is a genetic disorder resulting from de novo heterozygous pathogenic variants in POGZ, which manifests as intellectual disability, autism spectrum disorder, specific facial features and other phenotypic spectra. To date, a total of twenty-one de novo POGZ mutations in WHSUS have been reported. Here we report the identification of a novel missense variant in the coding region of the POGZ gene (c.4042G>C), which occurred in a 15-year-old male and his mother with WHSUS. We describe their clinical features and compare them with clinical data of patients with WHSUS from the literature. Our finding broadens the spectrum of POGZ mutations and provides a good example of precision medicine through the combination of exome sequencing and clinical testing.

Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc.

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