새로운 돌연변이를 가진 가족성 중추성 요붕증 = A Novel Mutation of the Vasopressin-Neurophysin II Gene in a Familial Neurohypophyseal Diabetes Insipidus

다국어 초록 (Multilingual Abstract)

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. (J Kor Endocrine Soc 22:118~124, 2007)

국문 초록 (Abstract)

본 저자들은 NP II유전자의 2번 엑손의 1692 염기서열 위치에서 새로운 돌연변이(+1692 C > A)를 확인하였다. 본 증례와 같이 다음, 다뇨을 나타내고 가족력에서 의심되는 증상을 보이는 환자에게 요붕증에 확진검사를 시행 후 유전자 검사를 시행하는 것이 필요하리라 생각된다.

참고문헌 (Reference)

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