Article
Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria.
BMC medical genomics - 19 Dec 2023
Liu Danhua, Zhao Yongli, Xue Xia, Hou Xinyue, Xu Hongen, Zhao Xinghua, Tian Yongan, Tang Wenxue, Guo Jiancheng, Xu Changbao
Abstract excerpt
BACKGROUND: Cystinuria is an autosomal recessive disorder characterized by a cystine transport deficiency in the renal tubules due to mutations in two genes: SLC3A1 and SLC7A9. Cystinuria can be classified into three forms based on the genotype: type A, due to mutations in the SLC3A1 gene; type B, due to mutations in the SLC7A9 gene; and type AB, due to mutations in both genes. METHODS: We report a 12-year-old...
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