title: A novel disease-causing mutation in AVPR2: Q96H.
abstract: A 4-month-old male infant was diagnosed with nephrogenic diabetes insipidus (NDI). Genetic testing of the arginine vasopressin receptor-2 (AVPR2) yielded a novel X-linked mutation, termed Q96H, in both the propositus and his mother; there was no family history. Protein sequence comparison between AVPR subtypes shows that Q96 is part of a highly conserved motif. Many other disease-causing mutations, confirmed with in vitro expression studies, map to surrounding residues. Molecular modelling studies showed that the equivalent residue in AVPR1 is likely critical for vasopressin binding. We posit that Q96 must be important for the integrity of AVPR2 function.
authors.affiliation: Division of Nephrology , The Hospital for Sick Children.
authors.forename: Mathieu
authors.initials: M
authors.lastname: Lemaire
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
authors.forename: Denis F
authors.initials: DF
authors.lastname: Geary
authors.forename: Daniel G
authors.initials: DG
authors.lastname: Bichet
authors.forename: Christoph
authors.initials: C
authors.lastname: Licht
keywords: AVPR2; DDAVP; nephrogenic diabetes insipidus; vasopressin