title: A de novo novel missense mutation in AVPR2 with severe nephrogenic diabetes insipidus.
abstract: We describe a paediatric case of nephrogenic diabetes insipidus (NDI) with a novel mutation in the arginine vasopressin receptor 2 gene (AVPR2) in the absence of a family history of congenital polyuria. The patient, a 5-month-old Caucasian boy, had failure to thrive and hypernatraemia. On admission to hospital, he had a plasma sodium of 171 mEq/L with a concomittant urine osmolality of 131 mOsm/kg. Molecular genetic analysis demonstrated that the patient had an AVPR2 mutation (c.861C > G) resulting in a substitution of tryptophan for serine at amino acid position 167 (p.Ser167Trp). His mother was heterozygous for the same Ser167Trp mutation which was found to be de novo from the DNA analysis of the maternal grandparents.
authors.affiliation: Department of Pediatrics , Wake Forest University School of Medicine , Winston-Salem, NC , USA.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Kobayashi
authors.affiliation: Department of Pediatrics, Division of Pediatric Nephrology , Duke University School of Medicine , Durham, NC , USA.
authors.forename: Shashi K
authors.initials: SK
authors.lastname: Nagaraj
authors.affiliation: Department of Pediatrics , Wake Forest University School of Medicine , Winston-Salem, NC , USA.
authors.forename: Jen-Jar
authors.initials: JJ
authors.lastname: Lin
authors.affiliation: Genetics of Renal Diseases, Group d'étude des protéines membranaires, and Université de Montréal, Research Center and Nephrology Service , Hopital du Sacré-Coeur de Montréal , Montréal, Québec , Canada.
authors.forename: Daniel G
authors.initials: DG
authors.lastname: Bichet
keywords: S167W; X-linked recessive disease; arginine vasopressin receptor 2; nephrogenic diabetes insipidus