A Novel Variant in Iranian Patient with Cystinuria: A Case Report

Cystinuria is an autosomal recessive disorder in which the renal reabsorption of cystine, arginine, lysine and ornithine are disturbed. The two genes, the pathogenic forms of which are responsible for the disorder, are SLC7A9 and SLC3A1. In this study, we describe a disease that has a new c.916A>...

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Autores principales: Mardi, Ali, Heidary, Hamed, Mousavi, Seyyed Mohammad, Khazaei, Ghasem, Taghizadeh, Eskandar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8542809/
https://www.ncbi.nlm.nih.gov/pubmed/34722386
http://dx.doi.org/10.18502/ijph.v50i9.7063
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author Mardi, Ali
Heidary, Hamed
Mousavi, Seyyed Mohammad
Khazaei, Ghasem
Taghizadeh, Eskandar
author_facet Mardi, Ali
Heidary, Hamed
Mousavi, Seyyed Mohammad
Khazaei, Ghasem
Taghizadeh, Eskandar
author_sort Mardi, Ali
collection PubMed
description Cystinuria is an autosomal recessive disorder in which the renal reabsorption of cystine, arginine, lysine and ornithine are disturbed. The two genes, the pathogenic forms of which are responsible for the disorder, are SLC7A9 and SLC3A1. In this study, we describe a disease that has a new c.916A> T variant (p. K306 *) in exon 5 of the SLC3A1 gene. This variant results in the NMD phenomenon in which the protein product is not produced because of mRNA destruction. In 2020, blood sample of a 41-yr-old man from east Azerbaijan, Iran together with his parents were collected to be studied. PCR and direct sequencing were performed to detect the possible SLC3A1 variant. Whole-gene sequence analysis done by Mutation surveyor Software revealed a novel nonsense homozygous variant in exon 5 of the gene. Parental Sequence Analysis shows that they are heterozygous. According to ACMG guideline, this variant is considered as pathogen. Finding serious mutations can allow rapid screening for cystinuria by analyzing common mutations. It should also be considered as a pathogenic variant in patients’ cystinuria.
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spelling pubmed-85428092021-10-29 A Novel Variant in Iranian Patient with Cystinuria: A Case Report Mardi, Ali Heidary, Hamed Mousavi, Seyyed Mohammad Khazaei, Ghasem Taghizadeh, Eskandar Iran J Public Health Case Report Cystinuria is an autosomal recessive disorder in which the renal reabsorption of cystine, arginine, lysine and ornithine are disturbed. The two genes, the pathogenic forms of which are responsible for the disorder, are SLC7A9 and SLC3A1. In this study, we describe a disease that has a new c.916A> T variant (p. K306 *) in exon 5 of the SLC3A1 gene. This variant results in the NMD phenomenon in which the protein product is not produced because of mRNA destruction. In 2020, blood sample of a 41-yr-old man from east Azerbaijan, Iran together with his parents were collected to be studied. PCR and direct sequencing were performed to detect the possible SLC3A1 variant. Whole-gene sequence analysis done by Mutation surveyor Software revealed a novel nonsense homozygous variant in exon 5 of the gene. Parental Sequence Analysis shows that they are heterozygous. According to ACMG guideline, this variant is considered as pathogen. Finding serious mutations can allow rapid screening for cystinuria by analyzing common mutations. It should also be considered as a pathogenic variant in patients’ cystinuria. Tehran University of Medical Sciences 2021-09 /pmc/articles/PMC8542809/ /pubmed/34722386 http://dx.doi.org/10.18502/ijph.v50i9.7063 Text en Copyright © 2021 Mardi et al. Published by Tehran University of Medical Sciences https://creativecommons.org/licenses/by-nc/4.0/This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International license (https://creativecommons.org/licenses/by-nc/4.0/). Non-commercial uses of the work are permitted, provided the original work is properly cited.
spellingShingle Case Report
Mardi, Ali
Heidary, Hamed
Mousavi, Seyyed Mohammad
Khazaei, Ghasem
Taghizadeh, Eskandar
A Novel Variant in Iranian Patient with Cystinuria: A Case Report
title A Novel Variant in Iranian Patient with Cystinuria: A Case Report
title_full A Novel Variant in Iranian Patient with Cystinuria: A Case Report
title_fullStr A Novel Variant in Iranian Patient with Cystinuria: A Case Report
title_full_unstemmed A Novel Variant in Iranian Patient with Cystinuria: A Case Report
title_short A Novel Variant in Iranian Patient with Cystinuria: A Case Report
title_sort novel variant in iranian patient with cystinuria: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8542809/
https://www.ncbi.nlm.nih.gov/pubmed/34722386
http://dx.doi.org/10.18502/ijph.v50i9.7063
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