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

Galloway—Mowat syndrome (GAMOS, OMIM: 251300) is a rare autosomal recessive (AR) neurodevelopmental disease, characterized by the combination of early-onset nephrotic syndrome and various central nervous system anomalies. The WD repeat-containing protein 73 (WDR73, OMIM: 616144) gene was the first gene found to be implicated in GAMOS1. An AR family with parental consanguinity underwent comprehensive clinical and genetic analyses. In this study, the variant identified by whole exome sequencing was confirmed by Sanger sequencing and cosegregation analysis. A literature review was conducted to summarize previously reported cases of GAMOS1 caused by mutations in the WDR73 gene. The proband with GAMOS1 was a 3-year-old boy with normal renal function and typical characteristics of GAMOS1, including idiopathic nystagmus, agenesis of genitalia, persistent axial hypotonia, mild cerebellar atrophy, thinning of the corpus callosum, and brainstem hypoplasia. A novel homozygous frameshift mutation c.972_973dupCT (p.F325Sfs * 10) in the exon 8 of the WDR73 gene was identified in the proband. We summarized thirty-six previously reported GAMOS1 cases caused by mutations in the WDR73 gene. 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.