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Iranian Biomedical Journal، جلد ۲۵، شماره ۵، صفحات ۳۵۹-۳۶۷
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
Distal Renal Tubular Acidosis in an Iranian Patient with Hereditary Spherocytosis |
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| چکیده انگلیسی مقاله |
Background: Hereditary spherocytosis (HS) and hereditary hereditary distal renal tubular acidosis (dRTA) are associated with mutations in the SLC4A1 gene encoding the anion exchanger 1. In this study, some patients with clinical evidence of congenital HS and renal symptoms were investigated. Methods: 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. Results: 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 SLC4A1 and SPTA1 genes, respectively. The compound heterozygous mutations manifested as idRTA and severe HS in patient HS03. Conclusion: Our observations, for the first time, revealed clinical and genetic characteristics of idRTA and severe HS in an Iranian patient HS03. |
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| کلیدواژه‌های انگلیسی مقاله |
Erythrocyte membrane protein, Hereditary spherocytosis, Hemolytic anemia, Whole-exome sequencing |
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| نویسندگان مقاله |
| Zahra Shahab-Movahed
Department of Cellular and Molecular Biology, Faculty of Science, North Tehran Branch of Islamic Azad University, Tehran, Iran
| Ahmad Majd
Department of Cellular and Molecular Biology, Faculty of Science, North Tehran Branch of Islamic Azad University, Tehran, Iran
| Elham Siasi Torbati
Department of Genetic, Faculty of Science, North Tehran Branch of Islamic Azad University, Tehran, Iran
| Sirous Zeinali
Department of Cellular and Molecular Biology, Faculty of Science, North Tehran Branch of Islamic Azad University, Tehran, Iran
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| نشانی اینترنتی |
http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-4388-1&slc_lang=en&sid=1 |
| فایل مقاله |
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| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
Molecular Genetics & Genomics |
| نوع مقاله منتشر شده |
مقاله کامل |
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