Iranian Biomedical Journal
مجله بیومدیکال ایران
IBJ
Basic Sciences
http://ibj.pasteur.ac.ir
1
admin
1028-852X
2008-823X
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10.61186/ibj
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8888
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en
jalali
1400
6
1
gregorian
2021
9
1
25
5
online
1
fulltext
en
Distal Renal Tubular Acidosis in an Iranian Patient with Hereditary Spherocytosis
Molecular Genetics & Genomics
Molecular Genetics & Genomics
مقاله کامل
Full Length/Original Article
<strong>Background: </strong>Hereditary spherocytosis (HS) and hereditary hereditary distal renal tubular acidosis (dRTA) are associated with mutations in the <em>SLC4A1</em> gene encoding the anion exchanger 1. In this study, some patients with clinical evidence of congenital HS and renal symptoms were investigated. <strong>Methods: </strong>Twelve patients with congenital HS and renal symptoms were recruited from Ali-Asghar Children’s Hospital (Tehran, Iran). A patient suspected of having dRTA was examined using whole exome sequencing method, followed by Sanger sequencing. <strong>Results: </strong>One patient (HS03) showed severe failure to thrive, short stature, frequent urinary infection, and weakness. A homozygote (rs571376371 for c.2494C>T; p.Arg832Cys) and a heterozygote (rs377051298 for c.466C>T; p.Arg156Trp) missense variant were identified in the <em>SLC4A1</em> and <em>SPTA1</em> genes, respectively. The compound heterozygous mutations manifested as idRTA and severe HS in patient HS03. <strong>Conclusion:</strong> Our observations, for the first time, revealed clinical and genetic characteristics of idRTA and severe HS in an Iranian patient HS03.
Erythrocyte membrane protein, Hereditary spherocytosis, Hemolytic anemia, Whole-exome sequencing
359
367
http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-4388-1&slc_lang=en&sid=1
Zahra
Shahab-Movahed
100319475328460054107
100319475328460054107
No
Department of Cellular and Molecular Biology, Faculty of Science, North Tehran Branch of Islamic Azad University, Tehran, Iran
Ahmad
Majd
100319475328460054108
100319475328460054108
No
Department of Cellular and Molecular Biology, Faculty of Science, North Tehran Branch of Islamic Azad University, Tehran, Iran
Elham
Siasi Torbati
100319475328460054109
100319475328460054109
No
Department of Genetic, Faculty of Science, North Tehran Branch of Islamic Azad University, Tehran, Iran
Sirous
Zeinali
zeinali@kawsar.ir
100319475328460054110
100319475328460054110
Yes
Department of Cellular and Molecular Biology, Faculty of Science, North Tehran Branch of Islamic Azad University, Tehran, Iran