Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine(2) in the vasopressin moiety of the hormone precursor.

@article{Rittig2002AutosomalDN,
  title={Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine(2) in the vasopressin moiety of the hormone precursor.},
  author={S\oren Rittig and Charlotte Siggaard and Metin Ozata and Ilhan Yetkin and N. Gregersen and Erling Bjerregaard Pedersen and Gary L. Robertson},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2002},
  volume={87 7},
  pages={3351-5}
}
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 the part of the AVP-NPII gene encoding the AVP moiety. This mutation (T-->C at… CONTINUE READING

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