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
Nephronjournal_title
Nephronauthors
Cheong HI,Park HW,Ha IS,Moon HN,Choi Y,Ko KW,Jun JKdoi
10.1159/000189581subject
Has Abstractpub_date
1997-01-01 00:00:00pages
431-7issue
4eissn
1660-8151issn
2235-3186journal_volume
75pub_type
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