Genetic diagnosis for a pedigree affected with hereditary nephrogenic diabetes insipidus.
10.3760/cma.j.issn.1003-9406.2019.02.011
- Author:
Zhijin LU
1
;
Xia WU
;
Renyuan ZHOU
;
Kai KAI
;
Jie WEN
;
Qian XIONG
Author Information
1. Jing'an District Central Hospital Affiliated to Fudan University, Shanghai 200040, China. xiong_qn@126.com.
- Publication Type:Journal Article
- MeSH:
Diabetes Insipidus, Nephrogenic;
High-Throughput Nucleotide Sequencing;
Humans;
Mutation;
Pedigree;
Receptors, Vasopressin
- From:
Chinese Journal of Medical Genetics
2019;36(2):140-142
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for pedigree affected with hereditary nephrogenic diabetes insipidus (HNDI).
METHODS:Next generation sequencing (NGS) with an osteology system gene panel was carried out for the proband. Suspected mutation was validated by Sanger sequencing of two relatives with similar symptoms and two unaffected relatives from the pedigree.
RESULTS:The proband was found to carry a c.856C>T mutation of the AVPR2 gene. The same mutation was detected in the two relatives with similar symptoms and one unaffected healthy relative.
CONCLUSION:The HNDI in this pedigree may be attributed to the c.856C>T mutation of the AVPR2 gene.
