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NDT Plus Advance Access originally published online on October 31, 2008
NDT Plus 2009 2(1):20-22; doi:10.1093/ndtplus/sfn163
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© The Author [2008]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org

A novel disease-causing mutation in AVPR2: Q96H

Mathieu Lemaire1, David Chitayat2,3, Denis F. Geary1,2, Daniel G. Bichet4,5 and Christoph Licht1,2

1 Division of Nephrology, The Hospital for Sick Children
2 University of Toronto
3 Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario
4 Department of Medicine and Physiology, Faculty of Medicine, Université de Montréal
5 Centre de recherche, Hôpital du Sacré-Cœur de Montréal, Montreal, Quebec, Canada

Correspondence: Correspondence and offprint requests to: Christoph Licht, Division of Nephrology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada. Tel: +1-416-813-7654, Ext. 2058; Fax: +1-416-813-6271; E-mail: christoph.licht{at}sickkids.ca


  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.

Key Words: AVPR2 • DDAVP • nephrogenic diabetes insipidus • vasopressin

Received for publication October 2, 2008. Accepted for publication October 3, 2008.


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