Cheong H I, Park H W, Ha I S, Moon H N, Choi Y, Ko K W, Jun J K
Department of Pediatrics, Seoul National University Children's Hospital, Korea.
Nephron. 1997;75(4):431-7. doi: 10.1159/000189581.
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.
X连锁肾性尿崩症（NDI）是一种由血管加压素V2受体（AVPR2）基因突变引起的罕见疾病。我们分析了6个无关的韩国X连锁NDI家系中的AVPR2基因，发现了6种新突变。其中2种是错义点突变，2种是导致移码的短缺失，1种是9个碱基的重复，1种是复合基因重排。4种突变与相应家庭成员的临床表型共分离，1种是新发突变。在1个家系中，通过羊膜穿刺术进行了产前诊断。总之，我们在6个家系中发现了6种导致X连锁NDI的AVPR2基因新突变，直接突变分析现在可用于携带者检测和早期（产前）诊断。
