Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus
Author Information
Author(s): Dong Yan, Sheng Haihui, Chen Xueru, Yin Jun, Su Qing
Primary Institution: Department of Endocrinology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine
Hypothesis
To investigate the mutation of AVPR2 gene in a Chinese family with congenital NDI.
Conclusion
The two patients in a Chinese family suffering from congenital NDI had a 5,995-bp deletion and 3-bp (GAG) insertion at Xq28.
Supporting Evidence
- The deletion encompassed a complete loss of the AVPR2 gene and the last exon of the C1 gene.
- Both patients showed normal stature and no evidence of mental retardation.
- Chemical laboratory tests were all within reference range.
Takeaway
Two patients from a Chinese family had a missing piece of DNA that caused a problem with a gene important for kidney function, leading to a condition where they couldn't concentrate their urine.
Methodology
PCR amplification and direct sequencing of the AVPR2 gene in two NDI patients and eight family members.
Limitations
The study only included two patients from one family, which may limit the generalizability of the findings.
Participant Demographics
Two patients with congenital NDI and eight family members, all from a Chinese family.
Digital Object Identifier (DOI)
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