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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