Congenital nephrogenic diabetes insipidus arginine vasopressin receptor 2 gene mutation at new site: A case report

Figure 1 Genetic testing results of the child indicated a arginine vasopressin receptor 2 gene mutation, c. 283 (exon2) C>T (p. P95S). This was a hemizygous mutation in the 2^nd exon of the arginine vasopressin receptor 2 (AVPR2) gene. The base C at position 283 became base T, which led to the change of amino acid. The amino acid at position 95 was mutated from proline to serine, p. P95S (p. Pro95Ser). This mutation was a missense mutation and a new mutation site in the AVPR2 gene. The mother of the proband is a carrier of this gene mutation, and the father has no abnormal mutation in this gene.