Expression of three different mutations in the arginine vasopressin gene suggests genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds. (Genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus)

2005 ◽  
Vol 63 (2) ◽  
pp. 207-216 ◽  
Author(s):  
Charlotte Siggaard ◽  
Jane H. Christensen ◽  
Thomas J. Corydon ◽  
Soren Rittig ◽  
Gary L. Robertson ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Vasopressin Gene

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.

A familial case of osteogenesis imperfecta: study of genotype-phenotype correlation

2013 ◽  
Author(s):  
Ponti Emanuela ◽  
Mihalich Alessandra ◽  
Broggi Francesca ◽  
Maria Di Blasio Anna ◽  
Luisa Bianchi Maria
Keyword(s):  
Osteogenesis Imperfecta ◽  
Familial Case ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

Low arginine vasopressin levels in patients with central diabetes insipidus is not associated with anaemia

2019 ◽  
Author(s):  
Benedict Morin ◽  
Bettina Winzeler ◽  
Julie Refardt ◽  
Cornelia Imber ◽  
Wiebke Fenske ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Central Diabetes Insipidus
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