Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus.

Abstract:

:X-linked nephrogenic diabetes insipidus (NDI) is a rare disease caused by mutations in the vasopressin V2 receptor (AVPR2) gene. We analyzed the AVPR2 gene in 6 unrelated Korean families with X-linked NDI, and found 6 novel mutations. Two of them were missense point mutations, 2 were short deletions causing frameshifts, 1 was a duplication of 9 bases, and 1 was a compound gene rearrangement. Four mutations cosegregated with the clinical phenotype in corresponding family members, and one was a de novo mutation. In 1 family, prenatal diagnosis was made by amniocentesis. In conclusion, we found 6 novel mutations in the AVPR2 gene causing X-linked NDI in 6 families, and direct mutational analysis is now applicable for carrier detection and early (prenatal) diagnosis.

journal_name

Nephron

journal_title

Nephron

authors

Cheong HI,Park HW,Ha IS,Moon HN,Choi Y,Ko KW,Jun JK

doi

10.1159/000189581

subject

Has Abstract

pub_date

1997-01-01 00:00:00

pages

431-7

issue

4

eissn

1660-8151

issn

2235-3186

journal_volume

75

pub_type

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