A novel mutation (R97C) in the neurophysin moiety of prepro-vasopressin-neurophysin II associated with autosomal-dominant neurohypophyseal diabetes insipidus
J Rutishauser, P Kopp, MB Gaskill, TJ Kotlar… - Molecular genetics and …, 1999 - Elsevier
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 …
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 …