Analysis of AVPR2 variant in a neonate with congenital nephrogenic diabetes insipidus.
10.3760/cma.j.cn511374-20190808-00403
- Author:
Yingfang YU
1
;
An CHEN
;
Jiyan ZHENG
;
Lihua CHEN
;
Lizhong DU
Author Information
1. Department of Neonatology, Children's Hospital Affiliated to Zhejiang University School of Medicine, Hangzhou, Zhejiang 310052, China. 6503071@zju.edu.cn.
- Publication Type:Journal Article
- MeSH:
Adult;
Diabetes Insipidus, Nephrogenic/genetics*;
Exons;
Female;
Frameshift Mutation;
Humans;
Hydrochlorothiazide/therapeutic use*;
Infant, Newborn;
Male;
Pedigree;
Receptors, Vasopressin/genetics*
- From:
Chinese Journal of Medical Genetics
2020;37(12):1376-1379
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To detect potential variant in a male neonate affected with congenital nephrogenic diabetes insipidus (CNDI).
METHODS:Clinical data of the patient was collected. Genomic DNA was extracted from peripheral blood samples from the child and his parents. The whole coding regions of the arginine vasopressin V2 receptor (AVPR2) gene were amplified by PCR and subjected to Sanger sequencing.
RESULTS:The patient presented recurrent fever and polyuria after birth. Multiple blood gas analyses indicated hypernatremia. Ultrasound showed bilateral hydronephrosis and hydroureter. The patient was partially responsive to hydrochlorothiazide. DNA analysis identified a hemizygous frameshift variant c.890-899delACCCGGAGGC in exon 2 of the AVPR2 gene in the proband. His mother was heterozygous for the same variant.
CONCLUSION:The c.890-899delACCCGGAGGC variant of the AVPR2 gene probably underlies the CNDI in the child. Above discovery has enriched to spectrum of CNDI associated variants.
