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Article

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

Psychiatric genetics - 1 Aug 2021

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

Abstract excerpt

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...

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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