Dataset Information

Analysis of SLC7A9 gene mutations among Jordanian patients with cystinuria.

ABSTRACT:

Background

Cystinuria is known as a heritable disorder affecting the cysteine reabsorption by renal system as well as the reabsorption of dibasic amino acids. The main objectives of the present study were to identify genetic mutations in SLC7A9 gene associated with cystinuria.

Methods

A cross sectional study design was conducted. A total of 28 patients diagnosed with cystinuria were included. Molecular techniques were applied to identify genetic mutations in SLC7A9 gene.

Results

The mean age of study participants was 31.57 ± 2.88 years, and slightly more than two thirds of participants were males. Mutations of SLC 7A9 gene showed that the majority of cases (57.1%) were homogeneous, (7.1%) heterogeneous, and slightly more than one third of patients had no mutations. There was no statistically significant relationship between mutations for the SLC7A9 gene and gender (p = 0.249).

Conclusion

Mutations in the SLC7A9 gene are prevalent and can be used as molecular tools to diagnose cystinuria.

SUBMITTER: Halalsheh OM

PROVIDER: S-EPMC7930589 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature

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Publications

Analysis of SLC7A9 gene mutations among Jordanian patients with cystinuria.

Halalsheh Omar M OM Al-Shehabat Mustafa A MA Al-Ghazo Moh''D A MA Al-Ghalayini Ibrahim F IF Altal Yaman A YA Al-Okour Radwan R Altal Omar O

Annals of medicine and surgery (2012) 20210225

<h4>Background</h4>Cystinuria is known as a heritable disorder affecting the cysteine reabsorption by renal system as well as the reabsorption of dibasic amino acids. The main objectives of the present study were to identify genetic mutations in SLC7A9 gene associated with cystinuria.<h4>Methods</h4>A cross sectional study design was conducted. A total of 28 patients diagnosed with cystinuria were included. Molecular techniques were applied to identify genetic mutations in SLC7A9 gene.<h4>Result ...[more]

PMID: 33680451

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Project description:Background and objectivesCystinuria is a rare inherited renal stone disease. Mutations in the amino acid exchanger System b(0,+), the two subunits of which are encoded by SLC3A1 and SLC7A9, predominantly underlie this disease. The work analyzed the epidemiology of cystinuria and the influence of mutations in these two genes on disease severity in a United Kingdom cohort.Design, setting, participants, & measurementsPrevalent patients were studied from 2012 to 2014 in the northeast and southwest of the United Kingdom. Clinical phenotypes were defined, and genetic analysis of SLC3A1 and SLC7A9 combining Sanger sequencing and multiplex ligation probe-dependent amplification was performed.ResultsIn total, 76 patients (42 men and 34 women) were studied. All subjects had proven cystine stones. Median age of presentation (first stone episode) was 24 years old, but 21% of patients presented after 40 years old. Patients had varied clinical courses, with 37% of patients having ≥10 stone episodes; 70% had evidence of CKD, and 9% had reached ESRD as a result of cystinuria and its complications. Patients with cystinuria received a variety of different therapies, with no obvious treatment consensus. Notably, 20% of patients had staghorn calculi, with associated impaired renal function in 80% of these patients. Genetic analysis revealed that biallelic mutations were present in either SLC3A1 (n=27) or SLC7A9 (n=20); 22 patients had only one mutated allele detected (SLC3A1 in five patients and SLC7A9 in 17 patients). In total, 37 different mutant variant alleles were identified, including 12 novel mutations; 22% of mutations were caused by large gene rearrangements. No genotype-phenotype association was detected in this cohort.ConclusionsPatients with cystinuria in the United Kingdom often present atypically with staghorn calculi at ≥40 years old and commonly develop significant renal impairment. There is no association of clinical course with genotype. Treatments directed toward reducing stone burden need to be rationalized and developed to optimize patient care.

Dataset Information

Analysis of SLC7A9 gene mutations among Jordanian patients with cystinuria.

Background

Methods

Results

Conclusion

Publications

Analysis of SLC7A9 gene mutations among Jordanian patients with cystinuria.

Similar Datasets

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