TY - JOUR
T1 - A signal peptide mutation of the arginine vasopressin gene in monozygotic twins
AU - Boson, Wolfanga L.
AU - Sarubi, Juliana C.
AU - D'Alva, Catarina B.
AU - Friedman, Eitan
AU - Faria, Daniela
AU - De Marco, Luiz
AU - Wajchenberg, Bernardo
PY - 2003
Y1 - 2003
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0037236853&partnerID=8YFLogxK
U2 - 10.1046/j.1365-2265.2003.01667.x
DO - 10.1046/j.1365-2265.2003.01667.x
M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???
C2 - 12519420
AN - SCOPUS:0037236853
SN - 0300-0664
VL - 58
SP - 108
EP - 110
JO - Clinical Endocrinology
JF - Clinical Endocrinology
IS - 1
ER -