A new type of familial central diabetes insipidus caused by a single base substitution in the neurophysin II coding region of the vasopressin gene
Y Ueta, S Taniguchi, A Yoshida, I Murakami, Y Mitani, I Hisatome, I Manabe, R Sato, M Tsuboi, A Ohtahara, E Nanba and C Shigemasa
The First Department of Internal Medicine, Tottori University Faculty of Medicine, Yonago, Japan.
We studied the genetic basis of familial neurohypophyseal diabetes
insipidus in a Japanese family. The members had polyuria and a deficiency
of plasma vasopressin (AVP). Polymerase chain reaction (PCR) amplified
exons of the AVP-neurophysin-II gene were subcloned and sequenced. Exons 1
and 3 were normal, but nucleotide 1884 Guanine (G) in exon 2 was
substituted with Thymine (T), which induced a substitution of glycine (Gly)
for valine (Val). To examine the presence of this mutation in the affected
subjects, we designed two mutated primers. One of them induced a new
endonuclease restriction site in the PCR fragments from normal, and the
other induced a new endonuclease restriction site from patients with the
mutation. DNA fragments from two affected members of this family were
amplified with this primer, and the PCR products were digested by
endonuclease and resolved by electrophoresis. The results indicated that
these subjects had both normal and mutant alleles, indicating that the
mutation was heterozygous. We concluded that this mutation caused
neurohypophyseal diabetes insipidus in this family.
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