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KMID : 0356620070220020118
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Journal of Korean Society of Endocrinology
2007 Volume.22 No. 2 p.118 ~ p.124
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A Novel Mutation of the Vasopressin-Neurophysin 2 Gene in a Familial Neurohypophyseal Diabetes Insipidus
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Kim Mi-Jung
Yoo Hyung-Joon
Kim Doo-Man
Yoo Jae-Myung
Kang Jun-Goo
Lee Byung-Wan
Lee Seong-Jin
Hong Eun-Gyoung
Kim Hyeon-Kyu
Ihm Sung-Hee
Choi Moon-Gi
Jeong In-Kyung
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Abstract
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Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is a rare form of central diabetes insipidus (DI), and this malady is clinically characterized by polydipsia and polyuria, and it is caused by mutation in the vasopressin-neurophysin II. We identified a Korean family that suffered with adFNDI and we found a novel mutation in the NP II molecule. The index subject’s DI symptoms dated to childhood, and his familial history was consistent with autosomal transmission. The diagnosis of central DI was done by performing a water deprivation test and a vasopressin challenge test. For molecular analysis, the genomic DNA was extracted and the AVP-NP II gene was amplified by polymerase chain reaction from four clinically-affected members and seven clinically-nonaffected members. Genetic analysis of AVP-NP II revealed new a heterozygous missense mutation in exon 2 of the AVP-NP II gene (+1692C > A) and this amino acid substitution (Cys105Stop) was predicted to have occurred in four clinically-affected subjects. In summary, in the present study we have described a novel mutation of the AVP-NPII gene in a Korean family suffering with adFNDI.
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KEYWORD
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Central diabetes insipidus, Korean Family, Vasopressin-neurophysin 2
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