Unveiling Maternal Germline Mosaicism in X-Linked Alport Syndrome by Advanced Genetic Testing

Yuting Shen; Caihong Liu; Wei Wei; Yongxiu Huang; Qian Zhu; Yuliang Zhao

doi:10.12659/AJCR.947287

06 August 2025 : Case report China

Unveiling Maternal Germline Mosaicism in X-Linked Alport Syndrome by Advanced Genetic Testing

Challenging differential diagnosis, Rare disease

Yuting Shen^{AEF 1,2}, Caihong Liu^{BCD 2}, Wei Wei^{BCD 2}, Yongxiu Huang

^{BCD 2}, Qian Zhu^{F 3}, Yuliang Zhao^{AF 2*}

DOI: 10.12659/AJCR.947287

Am J Case Rep 2025; 26:e947287

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Figure 2 Pedigree of the Alport syndrome family. The red filled symbols represent patients carrying the COL4A5 c.3508G>A p.G1170S missense variant. The proband is marked with a black arrow.

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Unveiling Maternal Germline Mosaicism in X-Linked Alport Syndrome by Advanced Genetic Testing

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