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"resumen" => "<p class="elsevierStylePara"><span class="elsevierStyleBold">Objective:</span> Nephropatic Cystinosis (NC) is a rare metabolic disorder due to mutation in the<span class="elsevierStyleItalic"><span class="elsevierStyleItalic"> </span></span><span class="elsevierStyleItalic">CTNS</span><span class="elsevierStyleItalic"> </span>gene in which more than 90 different mutations have already been reported so far. This study was performed to investigate mutations of the <span class="elsevierStyleItalic">CTNS</span><span class="elsevierStyleItalic"> </span>gene and its promoter in a number of Iranian patients with NC. <span class="elsevierStyleBold">Methods:</span> Polymerase chain reaction and direct sequencing were performed for molecular characterization of the <span class="elsevierStyleItalic">CTNS</span><span class="elsevierStyleItalic"> </span>gene in 25 patients from 24 unrelated Iranian families with NC. <span class="elsevierStyleBold">Results:</span> None of the patients showed the 57kb deletion in heterozygous or homozygous manner. One was homozygous for a novel mutation, which was termed as ‘c.153-155insCT’, while one of the cases was homozygous and another was compound heterozygous for the second novel mutation c.923G>A. Moreover three known mutations c.18–21delGACT, c.1017G<span class="elsevierStyleBold">></span>A, and c.681G>A in 11 of the patients were detected. No apparent mutation was observed in the rest of patients (44%, n=11). <span class="elsevierStyleBold">Conclusion:</span> The present data exhibit a fundament for molecular carrier detection and prenatal diagnosis of a relatively large percentage of Iranian patients suffering from NC, at least in the Southwestern Iran, where Arab ethnicity is one of the common ethnicities of the region.</p> <p class="elsevierStylePara"><span class="elsevierStyleBold"> </span></p>"
]
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"identificador" => "35393"
"tipo" => "SECCION"
"es" => array:2 [
"titulo" => "Artículos Originales"
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"idiomaDefecto" => "es"
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