Article
Detection of skewed X-inactivation in two female carriers of vasopressin type 2 receptor gene mutation.
The Journal of clinical endocrinology and metabolism - 1 Oct 1997
Nomura Y, Onigata K, Nagashima T, Yutani S, Mochizuki H, Nagashima K, Morikawa A
Abstract excerpt
Most cases of congenital nephrogenic diabetes insipidus (NDI) are inherited in an X-linked manner, which is due to the mutations of the vasopressin type 2 receptor (V2R) gene. However, recent reports have presented female NDI patients with heterozygote V2R gene mutations. The mechanism of inheritance was thought to be skewed X-inactivation. We present a family with congenital NDI. Three male members were...
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