Abstract
Autosomal-dominant familial neurohypophyseal diabetes insipidus (adFNDI) is caused by heterozygous mutations in the gene encoding vasopressin- neurophysin II (AVP-NPII) on chromosome 20p13. We analyzed the AVP-NP II gene in a family with adFNDI by direct sequencing. A novel C to T transition (289C→T in the cDNA, resulting in the substitution of Arg 97 by Cys (R97C) in the prepro-AVP-NPII precursor molecule) was identified in the gene region encoding neurophysin II in the index patient. This amino acid change is thought to result in the formation of an incorrectly folded hormone precursor, which may lead to chronic neurotoxicity and explain the dominant inheritance of the disease.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 89-92 |
| Number of pages | 4 |
| Journal | Molecular Genetics and Metabolism |
| Volume | 67 |
| Issue number | 1 |
| DOIs | |
| State | Published - May 1999 |
Funding
We thank Dr. Masafumi Ito for helpful discussions. This work was supported in part by a Northwestern University New Investigator Award from the Howard Hughes Medical Institute to P.K., a fellowship grant from the Kantonale Nachwuchskommission des Kanton Zürichs and of the Swiss Foundation of Biomedical Research to J.R., and the General Clinical Research Center of Northwestern University Medical School (NIH MO1-RR0048).
Keywords
- Autosomal dominant
- Diabetes insipidus
- Mutation
- Neurophysin II
- Vasopressin
ASJC Scopus subject areas
- Genetics
- Endocrinology
- Molecular Biology
- Biochemistry
- Endocrinology, Diabetes and Metabolism
