Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria.

ABSTRACT:

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 boy from central China with cystine stones. He was from a non-consanguineous family that had no known history of genetic disease. A physical examination showed normal development and neurological behaviors. Whole-exome and Sanger sequencing were used to identify and verify the suspected pathogenic variants.

Results

The compound heterozygous variants c.898_905del (

SUBMITTER: Liu D 

PROVIDER: S-EPMC10731833 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature