Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus—benefit of genetic testing

Abstract

• At least 70 different mutations were reported to date in about 100 families with neurohypophyseal diabetes insipidus (FNDI), and new mutations appear sporadically. What is New: • Two novel mutations of the AVP gene are reported • The importance of molecular testing in children with polyuria and inconclusive water deprivation test is emphasized.

Diagnosis and Treatment of Hereditary Central Diabetes Insipidus in a Swiss Family With a Mutation in the AVP Gene

“…Mutations in the same nucleotide position have been previously described in families with polyuria-polydipsia phenotype [ 4 , 5 ]. In these families, proline was substituted with leucine (P55L) or histidine (P55H) rather than arginine as in the Swiss family.…”