A novel homozygous frameshift mutation in the WDR73 gene causes Galloway-Mowat syndrome in a Chinese consanguineous family.

Bixia Wei; Yanli Qin; Huiqin Wang; Lin Ding; Tao Shen

doi:10.1080/13816810.2026.2626521

March 4, 2026

A novel homozygous frameshift mutation in the WDR73 gene causes Galloway-Mowat syndrome in a Chinese consanguineous family.

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Key Points

This research aims to identify genetic mutations responsible for Galloway-Mowat syndrome within a specific family.
Genetic analysis was conducted to identify mutations in the WDR73 gene.
The focus was on a consanguineous Chinese family with a history of Galloway-Mowat syndrome.
A novel homozygous frameshift mutation (c.972_973dupCT) in the WDR73 gene was identified.
The findings support the pathogenicity of mutations in the WDR73 gene related to Galloway-Mowat syndrome.

Implication

Novel mutation causes Galloway-Mowat syndrome in a consanguineous family, indicating new insights into its genetic basis.

Abstract

We identified a novel homozygous frameshift mutation (c.972_973dupCT) in the WDR73 gene, causing AR GAMOS1 in a Chinese consanguineous family. The results are essential for further confirming the pathogenicity of WDR73 gene mutations and expanding the manifestation spectrum of GAMOS1.

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Cite This Study

Wei et al. (2026) studied this question.

synapsesocial.com/papers/69abc1535af8044f7a4e9e69 https://doi.org/10.1080/13816810.2026.2626521

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A novel homozygous frameshift mutation in the WDR73 gene causes Galloway-Mowat syndrome in a Chinese consanguineous family.

Key Points

Implication

Abstract

Discussion

Cite This Study

A novel homozygous frameshift mutation in the WDR73 gene causes Galloway-Mowat syndrome in a Chinese consanguineous family.

Key Points

Implication

Abstract

Discussion

Cite This Study

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