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Updated: Jan 30, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
[Genetic diagnosis for a pedigree affected with hereditary nephrogenic diabetes insipidus]
Zhijin Lu1, Xia Wu, Renyuan Zhou
1Jing'an District Central Hospital Affiliated to Fudan University, Shanghai 200040, China. xiong_qn@126.com.
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.
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