当前位置： SCI文献检索 > JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION期刊下所有文献 > A novel heterozygous missense mutation in the vasopressin moiety is identified in a Japanese person with neurohypophyseal diabetes insipidus.

A novel heterozygous missense mutation in the vasopressin moiety is identified in a Japanese person with neurohypophyseal diabetes insipidus.

Abstract：

:The autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is caused by diverse mutations in one allele of the gene that encodes the arginine vasopressin (AVP) precursor protein, AVP-neurophysin II (AVP-NP II). Most of the mutations identified so far are located in either the signal peptide or NP II moiety. Two recently published mutations in the AVP gene identified in kindreds with adFNDI predict a substitution of histidine for tyrosine at position 2 and a deletion of phenylalanine at position 3 in AVP. They are unique among adFNDI mutations in that they are the only adFNDI mutations that affect amino acid residues in the AVP moiety of the pro-hormone. Here, we report a novel heterozygous missense mutation in the AVP moiety of the AVP-NP II gene in a Japanese person with neurohypophyseal diabetes insipidus (DI). This mutation occurs at position 2 in AVP and predicts a substitution of serine for tyrosine (Y21S). It is expected to interfere with normal binding of AVP with NP II, and thus result in misfolding of the precursor proteins. The data of this study support the notion that mutations affecting the AVP moiety can result in the initiation of the pathological processes.

journal_name

J Endocrinol Invest

journal_title

Journal of endocrinological investigation

authors

Kobayashi H,Fujisawa I,Ikeda K,Son C,Iwakura T,Yoshimoto A,Kasahara M,Ishihara T,Ogawa Y

doi

10.1007/BF03345549

subject

Has Abstract

pub_date

2006-03-01 00:00:00

pages

252-6

issue

3

eissn

0391-4097

issn

1720-8386

pii

1222

journal_volume

29

pub_type

杂志文章

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