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

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.