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Introduction <p>Nephrogenic diabetes insipidus (NDI) is a rare inherited disorder that causes excessive urine output and water consumption, because of unresponsiveness of the kidney to arginine-vasopressin (AVP). This condition, which is usually caused by <i>AVPR2</i> or <i>AQP2</i> gene variants, causes impaired water reabsorption in the kidney. This study investigated five patients from four unrelated families that were suspected of having NDI. </p> Materials and Methods <p>Genomic DNA was extracted from blood samples, followed by PCR amplification of&#xa0;AVPR2&#xa0;and&#xa0;AQP2,&#xa0;and Sanger sequencing was performed afterwards.</p> Results <p>Four distinct variants were detected: three in the <i>AVPR2</i> gene and one in the <i>AQP2</i> gene. Notably, two <i>AVPR2</i> variants, c.676del and c.254_262del, were novel. The third <i>AVPR2</i> variant, c.887G &gt; A, along with the <i>AQP2</i> variant, c.538G &gt; A, had been previously reported. </p> Discussion <p>According to the ACMG guidelines, all variants were considered to be likely pathogenic. Although our sample size was small, we found higher number of <i>AVPR2</i> gene variants as compared with the results reported in Iran. Our findings also indicated that most variations were concentrated in exon 3 of <i>AVPR2</i> gene, suggesting its importance as a critical region for this gene. Literature reviews conducted in the last 5 years in the Asian population showed a wide range of variants, with the most cases reported from China and Japan. It appears that some populations may experience recurrent variants (founder mutation), while others, reveal rare and unique genetic variants across subgroups in larger populations.</p>

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Reporting Two Novel Mutations in Iranian Nephrogenic Diabetes Insipidus Patients and a Review of the Literature

  • 期刊论文

  • 发表日期：

    2025年6月12日

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  • Bahar Jamshidi,
  • Nakysa Hooman,
  • Hossein Emad Momtaz,
  • Samaneh Ahmadi,
  • Marzieh Mojbafan

摘要

Introduction

Nephrogenic diabetes insipidus (NDI) is a rare inherited disorder that causes excessive urine output and water consumption, because of unresponsiveness of the kidney to arginine-vasopressin (AVP). This condition, which is usually caused by AVPR2 or AQP2 gene variants, causes impaired water reabsorption in the kidney. This study investigated five patients from four unrelated families that were suspected of having NDI.

Materials and Methods

Genomic DNA was extracted from blood samples, followed by PCR amplification of AVPR2 and AQP2, and Sanger sequencing was performed afterwards.

Results

Four distinct variants were detected: three in the AVPR2 gene and one in the AQP2 gene. Notably, two AVPR2 variants, c.676del and c.254_262del, were novel. The third AVPR2 variant, c.887G > A, along with the AQP2 variant, c.538G > A, had been previously reported.

Discussion

According to the ACMG guidelines, all variants were considered to be likely pathogenic. Although our sample size was small, we found higher number of AVPR2 gene variants as compared with the results reported in Iran. Our findings also indicated that most variations were concentrated in exon 3 of AVPR2 gene, suggesting its importance as a critical region for this gene. Literature reviews conducted in the last 5 years in the Asian population showed a wide range of variants, with the most cases reported from China and Japan. It appears that some populations may experience recurrent variants (founder mutation), while others, reveal rare and unique genetic variants across subgroups in larger populations.