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Article

A Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum.

Molecular genetics & genomic medicine - 1 Dec 2025

Li Xin, Wang Shuping, Liu Xin, Wang Zhenjing, Lv Na, Wang Shaoting, Yang Wentao

Abstract excerpt

BACKGROUD: To investigate the clinical features and genetic etiology of one child with Okur-Chung neurodevelopmental syndrome (OCNDS). The pathogenic variation spectrum of the CSNK2A1 gene and the phenotype spectrum of OCNDS were analyzed retrospectively. METHODS: A patient was selected from the endocrinology department of Dongying People's Hospital in July 2024. The genetic etiology of the phenotypic abnormality...

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Identifiers

PMID: 41395761
DOI: 10.1002/mgg3.70166
PMCID: PMC12703824

Genes

CSNK2A1

Variants

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