Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Cystinuria gene 1

This gene is one of two genes involved in cystinuria.

Epidemiology

The frequency is 1:7.000. This way cystinuria is one of the most frequent inherited diseases.

Gene Structure

The gene with the current short name SLC3A1 also known as rBAT. It is located on chromosome 2 (2 p16.3). Its size is about 45 kb and it consists of 10 Exons.

Phenotype

The symptomes of cystinuria are defined by the formation of cystein kidney stones. These stones show a glistening yellow color. When recognized early a prophylaxis is possible. Mutations of this great subunit of the amino acid transporter appear clinically as type I cystinuria according to ROSENBERG.

Pathology

Together with the small subunit the protein product of this gene forms a heterodimer which is involved in cystine and dibasic and neutral amino acid transport in proximal tubule and intestine. But only cystinuria gains clinical importance as a result of kidney stone formation.

Test Strategy

The genetic test is provided for effective family couselling and confirmation of a clinical suspicion to provide an early prophylaxis.

Interpretation

The finding of a relavant mutation confirms a clinical diagnosis.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Cystinuria
SLC3A1
SLC7A9

References:

1.

None (2004) The molecular basis of kidney stones.

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2.

None (2004) The molecular basis of cystinuria.

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3.

Dello Strologo L et al. (2006) Cystinuria.

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4.

Orphanet article

Orphanet ID 123426 [^]
5.

NCBI article

NCBI 6519 [^]
6.

OMIM.ORG article

Omim 104614 [^]
7.

Wikipedia article

Wikipedia EN (SLC3A1) [^]
Update: April 29, 2019