Abstract
BackgroundCongenital nephrogenic diabetes insipidus (NDI) is a rare X-linked inherited disorder characterized by the excretion of large volumes of diluted urine and caused by mutations in arginine vasopressin receptor 2 (AVPR2) gene. To investigate the mutation of AVPR2 gene in a Chinese family with congenital NDI, we screened AVPR2 gene in two NDI patients and eight family members by PCR amplification and direct sequencing.ResultsFive specific fragments, covering entire coding sequence and their flanking intronic sequences of AVPR2 gene, were not observed in both patients, while those fragments were all detected in the control subjects. Several different fragments around the AVPR2 locus were amplified step by step. It was revealed that a genomic fragment of 5,995-bp, which contained the entire AVPR2 gene and the last exon (exon 22) of the C1 gene, was deleted and a 3-bp (GAG) was inserted. Examination of the other family members showed that the mothers and the grandmother were carriers for this deletion.ConclusionOur findings suggest that the two patients in a Chinese family suffering from congenital NDI had a 5,995-bp deletion and 3-bp (GAG) insertion at Xq28. The deletion contained the entire AVPR2 gene and exon 22 of the C1 gene.
Highlights
Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked inherited disorder characterized by the excretion of large volumes of diluted urine and caused by mutations in arginine vasopressin receptor 2 (AVPR2) gene
Congenital nephrogenic diabetes insipidus (NDI) is a rare inherited disorder characterized by the excretion of large volumes of diluted urine resulting from resistance of the renal collecting duct to the antidiuretic hormone arginine vasopressin (AVP), and the clinical characteristics include polyuria, polydipsia, fever, hypernatremic dehydration, and constipation
There were no abnormality of electrocardiographic measurements and no abnormality of pituitary by Magnetic Resonance Imaging (MRI) examinations, and the ultrasonographic examinations of urinary system revealed that there were normalities in size and structure of kidney, ureter and urinary bladder
Summary
Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked inherited disorder characterized by the excretion of large volumes of diluted urine and caused by mutations in arginine vasopressin receptor 2 (AVPR2) gene. Congenital nephrogenic diabetes insipidus (NDI) is a rare inherited disorder characterized by the excretion of large volumes of diluted urine resulting from resistance of the renal collecting duct to the antidiuretic hormone arginine vasopressin (AVP), and the clinical characteristics include polyuria, polydipsia, fever, hypernatremic dehydration, and constipation. The phenomenon of so many mutations in AVPR2 gene in NDI patients indicates that this disease is highly heterogeneous at the molecular level. Among these mutations, the (page number not for citation purposes)
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