Article
Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine(2) in the vasopressin moiety of the hormone precursor.
The Journal of clinical endocrinology and metabolism - 1 Jul 2002
Rittig Søren, Siggaard Charlotte, Ozata Metin, Yetkin Ilhan, Gregersen Niels, Pedersen Erling B, Robertson Gary L
Abstract excerpt
The autosomal dominant form of familial neurohypophyseal diabetes insipidus (adFNDI) has been linked to 40 different mutations of the gene encoding the vasopressin-neurophysin II (AVP-NPII) precursor. All of these mutations have been located in either the signal peptide or neurophysin II moiety. We now report a three-generation Turkish kindred in which severe adFNDI cosegregates with a novel missense mutation in...
Topics
- Adolescent
- Adult
- Amino Acid Substitution
- Diabetes Insipidus, Neurogenic
- Female
- Genes, Dominant
- Histidine
- Humans
- Male
- Middle Aged
- Mutation
- Neurophysins
- Pedigree