Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II).

Détails

ID Serval
serval:BIB_38D18B9DCAA8
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II).
Périodique
European journal of endocrinology
Auteur(s)
Flück C.E., Deladoëy J., Nayak S., Zeller O., Kopp P., Mullis P.E.
ISSN
0804-4643 (Print)
ISSN-L
0804-4643
Statut éditorial
Publié
Date de publication
10/2001
Peer-reviewed
Oui
Volume
145
Numéro
4
Pages
439-444
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
To study clinical, morphological and molecular characteristics in a Swiss family with autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI).
A 15-month-old girl presenting with symptoms of polydipsia and polyuria was investigated by water deprivation test. Evaluation of the family revealed three further family members with symptomatic vasopressin-deficient diabetes insipidus. T1-weighted magnetic resonance images of the posterior pituitary were taken in two affected adult family members and molecular genetic analysis was performed in all affected individuals.
The water deprivation test in the 15-month-old child confirmed the diagnosis of vasopressin-deficient diabetes insipidus and the pedigree was consistent with autosomal dominant inheritance. The characteristic bright spot of the normal vasopressin-containing neurophypophysis was absent in both adults with adFNDI. Direct sequence analysis revealed a new deletion (177-179DeltaCGC) in exon 2 of the AVP-NP II gene in all affected individuals. At the amino acid level, this deletion eliminates cysteine 59 (C59Delta) and substitutes alanine 60 by tryptophan (A60W) in the AVP-NP II precursor; interestingly, the remainder of the reading frame remains unchanged. According to the three-dimensional structure of neurophysin, C59 is involved in a disulphide bond with C65.
Deletion of C59 and substitution of A60W in the AVP-NP II precursor is predicted to disrupt one of the seven disulphide bridges required for correct folding of the neurophysin moiety and thus disturb the function of neurophysin as the vasopressin transport protein. These data are in line with the clinical and morphological findings in the reported family with adFNDI.
Mots-clé
Amino Acid Sequence/genetics, Arginine Vasopressin/deficiency, Base Sequence/genetics, Diabetes Insipidus/diagnosis, Diabetes Insipidus/etiology, Diabetes Insipidus/genetics, Female, Genes, Dominant, Humans, Infant, Magnetic Resonance Imaging, Molecular Biology/methods, Molecular Sequence Data, Neurophysins/genetics, Pedigree, Protein Precursors/genetics, Switzerland, Vasopressins/genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
30/12/2020 15:58
Dernière modification de la notice
31/12/2020 7:26
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