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

Cystinuria is the most common genetic cause of urinary stones. Defects in SLC3A1/SLC7A9 genes coding cystine transporter proteins rBAT/b<sup>0,+</sup>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 next-generation sequencing. Excretion of cystine was determined by 24 h urine analysis. The median age of presentation was 17 years. In total, 51 different mutant variant alleles were identified (22 and 29 mutant variants in SLC3A1 and SLC7A9, respectively), including 25 novel variants. The p.(Pro482Leu) (c.1445C > T) variant in SCL7A9 was predominantly found in 73 patients. Variants in exon-intron boundaries were identified in 6 cases. The patient with a homozygote intron (exon-intron boundary) variant in SCL7A9 presented a severe phenotype with a significant loss of mRNA expression. Including exon and exon-intron boundary variants reduced the number of cases that did not fit autosomal recessive inheritance from 14 to 9%. Current data revealed a specific genotype of Japanese cystinuria through the analysis of exon and exon-intron boundaries.

Authors

Institutions

Publication Details

Journal
Scientific Reports
Published
2025-09-26
DOI
https://doi.org/10.1038/s41598-025-14240-4
Primary Topic
Amino Acid Enzymes and Metabolism
Type
article
Field-Weighted Citation Impact
0.00

Funders

Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

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

Kazumi Taguchi, Arthit Chairoungdua, Chieko Hosaka, Masaaki Fujimura et al.
Scientific Reports
Amino Acid Enzymes and Metabolism
article

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

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

Abstract

Cystinuria is the most common genetic cause of urinary stones. Defects in SLC3A1/SLC7A9 genes coding cystine transporter proteins rBAT/b<sup>0,+</sup>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 next-generation sequencing. Excretion of cystine was determined by 24 h urine analysis. The median age of presentation was 17 years. In total, 51 different mutant variant alleles were identified (22 and 29 mutant variants in SLC3A1 and SLC7A9, respectively), including 25 novel variants. The p.(Pro482Leu) (c.1445C > T) variant in SCL7A9 was predominantly found in 73 patients. Variants in exon-intron boundaries were identified in 6 cases. The patient with a homozygote intron (exon-intron boundary) variant in SCL7A9 presented a severe phenotype with a significant loss of mRNA expression. Including exon and exon-intron boundary variants reduced the number of cases that did not fit autosomal recessive inheritance from 14 to 9%. Current data revealed a specific genotype of Japanese cystinuria through the analysis of exon and exon-intron boundaries.

Scientific ReportsVol. 15(1)
Fujita Health University (JP), Chiba University (JP), Mahidol University (TH), Nagoya City University (JP), Chibaken Saiseikai Narashino Hospital (JP), Chiba University Hospital (JP), Tokyo Medical University Hospital (JP), Kawamura Hospital (JP), Fujita Health University Hospital (JP), Teikyo University Chiba Medical Center (JP), Japan Community Healthcare Organization (JP), Funabashi Orthopaedic Hospital (JP), The University of Osaka (JP)
Japan Agency for Medical Research and Development, Chiba University
Openalex Percentile: Top 75%
Amino Acid Enzymes and Metabolism
DOIOpen Access PDFOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.