Genetic and clinical characteristics of Japanese cystinuria with exon and exon-intron boundary variants.

doi:10.1038/s41598-025-14240-4

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Genetic and clinical characteristics of Japanese cystinuria with exon and exon-intron boundary variants.

Scientific reports - 26 Sept 2025

Sakamoto Shinichi, Naya Yukio, Rii Junryo, Taguchi Kazumi, Fujimura Masaaki, Shigeta Yasuhiro, Chairoungdua Arthit, Nishimura Motoi, Wakai Ken, Yamada Yasutaka, Zhao Xue, Imamura Yusuke, Tajima Sawako, Sato Natsumi, Hosaka Chiaki, Sekine Mizuka, Ueda Takeshi, Hamamoto Shuzo, Yasui Takahiro, Kanai Yoshikatsu, Akakura Koichiro, Ikehara Yuzuru, Anzai Naohiko, Ichikawa Tomohiko

Abstract excerpt

Cystinuria is the most common genetic cause of urinary stones. Defects in SLC3A1/SLC7A9 genes coding cystine transporter proteins rBAT/b0,+AT will cause Cystinuria. The current work analyzed the clinical and genetic characteristics of Japanese Cystinuria patients. In total, 101 Cystinuria patients were studied. Clinical phenotypes were defined, and genetic analysis of SLC3A1 and SLC7A9 was performed by...

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PMID: 41006421
DOI: 10.1038/s41598-025-14240-4
PMCID: PMC12475139

Genes

SLC3A1
SLC7A9

Variants

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