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A signal peptide mutation of the arginine vasopressin gene in monozygotic twins.

Abstract：

:Familial neurohypophysial diabetes insipidus (FNDI) is a rare autosomal dominant syndrome stemming from the absence of arginine vasopressin (AVP). More than thirty-five different germline mutations in the arginine vasopressin-neurophysin II gene have been reported. These mutations are either in the signal peptide or scattered throughout the neurophysin II domain. A missense mutation altering alanine at position -1 to either valine or threonine in the signal peptide domain has previously been found in ten unrelated families. In the present report, Brazilian female monozygotic twins with clinically typical central DI in whom biochemical and molecular characterization were carried out are described. Direct mutational analysis by sequencing of the vasopressin gene in germline DNA revealed a heterozygous missense mutation (G-->A) at nucleotide 279, predicting the substitution of alanine by threonine at position -1 of the signal peptide moiety. In summary, we present an extremely rare case of familial central diabetes insipidus in monozygotic Brazilian twins with a seemingly common missense mutation in the AVP gene.

journal_name

Clin Endocrinol (Oxf)

journal_title

Clinical endocrinology

authors

Boson WL,Sarubi JC,d'Alva CB,Friedman E,Faria D,De Marco L,Wajchenberg B

doi

10.1046/j.1365-2265.2003.01667.x

keywords:

subject

Has Abstract

pub_date

2003-01-01 00:00:00

pages

108-10

issue

1

eissn

0300-0664

issn

1365-2265

pii

1667

journal_volume

58

pub_type

杂志文章

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