Familial neurohypophyseal diabetes insipidus: clinical, genetic and functional studies of novel mutations in the arginine vasopressin gene

Pituitary ◽  
2021 ◽  
Author(s):  
Maria Inês Alvelos ◽  
Ângela Francisco ◽  
Leonor Gomes ◽  
Isabel Paiva ◽  
Miguel Melo ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Novel Mutations ◽  
Clinical Genetic ◽  
Functional Studies ◽  
Vasopressin Gene

scholarly journals Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis

2003 ◽  
Vol 12 (1) ◽  
pp. 44-51 ◽  
Author(s):  
Jane H Christensen ◽  
Charlotte Siggaard ◽  
Thomas J Corydon ◽  
Luisa deSanctis ◽  
Laszlo Kovacs ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Autosomal Dominant ◽  
Novel Mutations ◽  
Vasopressin Gene ◽  
Insight Into

scholarly journals Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family

2008 ◽  
Vol 52 (8) ◽  
pp. 1272-1276 ◽  
Author(s):  
Maria Edna de Melo ◽  
Suemi Marui ◽  
Vinícius Nahime de Brito ◽  
Marcio Corrêa Mancini ◽  
Berenice B. Mendonca ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Direct Sequencing ◽  
Sequencing Analysis ◽  
The Novel ◽  
Autosomal Dominant Disorder ◽  
Vasopressin Gene ◽  
Avp Gene

Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is a rare autosomal dominant disorder characterized by polyuria and polydipsia due to deficiency of arginine vasopressin (AVP). More than 50 mutations causing adFNDI have been already reported in the AVP gene. The aim of the present study is to analyze the AVP gene in four generations of one Brazilian kindred with adFNDI. The proband was a 31-year old female with huge hypotonic polyuria (10 L/day) dated from childhood. Molecular analysis included amplification of all exons and exon-intron regions of the AVP gene by PCR and direct sequencing. Sequencing analysis showed a novel point mutation in heterozygous: G88V (GGC>GTC). All affected patients presented the same mutation also in heterozygous, while it was absent in four normal members. We expand the repertoire of mutations in AVP describing the novel G88V mutation in one Brazilian kindred with adFNDI.

scholarly journals SP011CHARACTERIZATION OF NOVEL MUTATIONS IN ARGININE VASOPRESSIN RECEPTOR 2 GENE (AVRP2) CAUSING NEPHROGENIC DIABETES INSIPIDUS

2018 ◽  
Vol 33 (suppl_1) ◽  
pp. i350-i351
Author(s):  
Federica Prosperi ◽  
Vincenzo Costanzo ◽  
Anna Iervolino ◽  
Federica Petrillo ◽  
Luigi De la Motte ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Nephrogenic Diabetes Insipidus ◽  
Vasopressin Receptor ◽  
Novel Mutations

Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study

2015 ◽  
Vol 174 (10) ◽  
pp. 1373-1385 ◽  
Author(s):  
Alejandro García Castaño ◽  
◽  
Gustavo Pérez de Nanclares ◽  
Leire Madariaga ◽  
Mireia Aguirre ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Genetic Study ◽  
Nephrogenic Diabetes Insipidus ◽  
Novel Mutations ◽  
Clinical Genetic

scholarly journals Central Diabetes Insipidus Associated with a Missense Mutation in the Arginine Vasopressin Gene that Replaces Ala at the Carboxyterminus of the Signal Peptide with Thr.

1998 ◽  
Vol 37 (8) ◽  
pp. 683-686 ◽  
Author(s):  
Akiko KAWAKAMI ◽  
Yasuyuki OKAMOTO ◽  
Tsunehiko YAMAMOTO ◽  
Youichi TATSUMI ◽  
Takami MIKI ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Missense Mutation ◽  
Signal Peptide ◽  
Arginine Vasopressin ◽  
Central Diabetes Insipidus ◽  
Vasopressin Gene

scholarly journals Two Novel Mutations of the Vasopressin Gene Associated with Familial Diabetes Insipidus and Identification of an Asymptomatic Carrier Infant1

1998 ◽  
Vol 83 (11) ◽  
pp. 3958-3964
Author(s):  
Frederick D. Grant ◽  
Arshanoush Ahmadi ◽  
Catherine M. Hosley ◽  
Joseph A. Majzoub
Keyword(s):  
Diabetes Insipidus ◽  
Genomic Dna ◽  
Autosomal Dominant ◽  
Restriction Site ◽  
Asymptomatic Carrier ◽  
Dominant Mode ◽  
Heterozygous Mutation ◽  
Novel Mutations ◽  
Balance Study ◽  
Vasopressin Gene

Familial diabetes insipidus (FDI) is a syndrome of central vasopressin deficiency that is inherited in an autosomal dominant manner and that typically becomes clinically apparent in the first decade of life. Two novel mutations of the vasopressin gene have been identified in two previously unstudied kindreds with FDI. In each kindred, the inheritance of the FDI phenotype was consistent with an autosomal dominant mode of inheritance. In each proband, the diagnosis of central diabetes insipidus had been confirmed previously with a water deprivation protocol. After extraction of genomic DNA from each individual, the three exons of the vasopressin gene were separately amplified by PCR and directly sequenced using an automated dye termination method. In the proband and two other carriers of one kindred, a heterozygous C to T mutation was identified at nucleotide 1857. This is predicted to produce a serine to phenylalanine substitution at residue 56 of the vasopressin-related neurophysin peptide encoded by the mutated allele. The mutation also abolished an MspI site in the vasopressin sequence, and analysis of genomic DNA from eight members of the kindred (five with FDI) confirmed segregation of the mutation with the FDI phenotype. Another member of the kindred, a 13-month-old infant, also has the heterozygous C to T mutation, but a formal water balance study showed no evidence of diabetes insipidus. In the proband of the other kindred, a heterozygous G to A mutation was identified at nucleotide 1873. This mutation would be predicted to cause a cysteine to tyrosine substitution at residue 61 of the neurophysin encoded by the mutated allele. This heterozygous mutation was confirmed by the presence of an RsaI restriction site in one vasopressin allele in two members of the kindred. Therefore, two novel heterozygous mutations of the vasopressin gene have been identified in FDI kindreds. In one kindred, an asymptomatic carrier infant was identified and will require continued observation to determine whether she will develop clinical diabetes insipidus. The presence of these two novel mutations in a region of the vasopressin gene where other FDI mutations have been reported suggests that the part of the neurophysin peptide encoded by these sequences may be critically important in the appropriate expression of vasopressin.

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