Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus

References

• Bichet DG. Vasopressin receptor mutations in nephrogenic diabetes insipidus. Semin Nephrol 2008;28:245–51.
   PubMed Web of Science ®Google Scholar
• Morello JP, Bichet DG. Nephrogenic diabetes insipidus. Annu Rev Physiol 2001;63:607–30.
   PubMed Web of Science ®Google Scholar
• Nomura Y, Onigata K, Nagashima T, Yutani S, Mochizuki H, Nagashima K, Detection of skewed X-inactivation in two female carriers of vasopressin type 2 receptor gene mutation. J Clin Endocrinol Metab 1997;82:3434–7.
   PubMed Web of Science ®Google Scholar
• Arthus MF, Lonergan M, Crumley MJ, Naumova AK, Morin D, De Marco LA, Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus. J Am Soc Nephrol 2000;11:1044–54.
   PubMed Web of Science ®Google Scholar
• Baylis PH. Diabetes insipidus. J R Coll Physicians Lond 1998;32:108–11.
   PubMedGoogle Scholar
• Orstavik KH. Skewed X inactivation in healthy individuals and in different diseases. Acta Paediatr Suppl 2006;95:24–9.
   PubMedGoogle Scholar
• Knoers NV, van den Ouweland AM, Verdijk M, Monnens LA, van Oost BA. Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus. Kidney Int 1994;46:170–6.
   PubMed Web of Science ®Google Scholar
• Sadeghi H, Robertson GL, Bichet DG, Innamorati G, Birnbaumer M. Biochemical basis of partial nephrogenic diabetes insipidus phenotypes. Molec Endocrinol 1997;11:1806–13.
   PubMedGoogle Scholar
• Pasel K, Schulz A, Timmermann K, Linnemann K, Hoeltzenbein M, Jaaskelainen J, Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families. J Clin Endocrinol Metab 2000;85:1703–10.
   PubMed Web of Science ®Google Scholar
• Rittig S, Robertson GL, Siggaard C, Kovacs L, Gregersen N, Nyborg J, Identification of 13 new mutations in the vasopressin–neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus. Am J Hum Genet 1996;58:107–17.
   PubMed Web of Science ®Google Scholar
• Kamperis K, Siggaard C, Herlin T, Nathan E, Hertz JM, Rittig S. A novel splicing mutation in the V2 vasopressin receptor. Pediatr Nephrol 2000;15:43–9.
   PubMed Web of Science ®Google Scholar
• Hagstroem S, Kamperis K, Rittig S, Rijkhoff NJ, Djurhuus JC. Monosymptomatic nocturnal enuresis is associated with abnormal nocturnal bladder emptying. J Urol 2004;171:2562–6.
   PubMed Web of Science ®Google Scholar
• Lexner M, Bardow A, Juncker I, Jensen L, Almer L, Kreiborg S, X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families. Clin Genet 2008;74:252–9.
   PubMed Web of Science ®Google Scholar
• Carrel L, Willard HF. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 2005;434:400–4.
   PubMed Web of Science ®Google Scholar
• Sharp A, Robinson D, Jacobs P. Age- and tissue-specific variation of X chromosome inactivation ratios in normal women. Hum Genet 2000;107:343–9.
   PubMed Web of Science ®Google Scholar
• Gale RE, Wheadon H, Boulos P, Linch DC. Tissue specificity of X-chromosome inactivation patterns. Blood 1994;83:2899–905.
   PubMed Web of Science ®Google Scholar
• Dipple KM, McCabe ER. Modifier genes convert “simple” Mendelian disorders to complex traits. Mol Genet Metab 2000;71:43–50.
   PubMed Web of Science ®Google Scholar
• Dipple KM, McCabe ER. Phenotypes of patients with “simple” Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am J Hum Genet 2000;66:1729–35.
   PubMed Web of Science ®Google Scholar
• Walia S, Fishman GA, Swaroop A, Branham KE, Lindeman M, Othman M, Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene. Arch Ophthalmol 2008;126:379–84.
   PubMedGoogle Scholar
• Knoers N, Monnens LA. Amiloride-hydrochlorothiazide versus indomethacin-hydrochlorothiazide in the treatment of nephrogenic diabetes insipidus. J Pediatr 1990;117:499–502.
   PubMed Web of Science ®Google Scholar
• Libber S, Harrison H, Spector D. Treatment of nephrogenic diabetes insipidus with prostaglandin synthesis inhibitors. J Pediatr 1986;108:305–11.
   PubMed Web of Science ®Google Scholar
• Kim SW, Kim JW, Choi KC, Ma SK, Oh Y, Jung JY, Indomethacin enhances shuttling of aquaporin-2 despite decreased abundance in rat kidney. J Am Soc Nephrol 2004;15:2998–3005.
   PubMed Web of Science ®Google Scholar
• Pattaragarn A, Alon US. Treatment of congenital nephrogenic diabetes insipidus by hydrochlorothiazide and cyclooxygenase-2 inhibitor. Pediatr Nephrol 2003;18:1073–6.
   PubMed Web of Science ®Google Scholar
• Bonioli E, Bellini C. Therapy for hereditary nephrogenic diabetes insipidus. J Pediatr 1991;119:331.
   PubMed Web of Science ®Google Scholar
• Magaldi AJ. New insights into the paradoxical effect of thiazides in diabetes insipidus therapy. Nephrol Dial Transplant 2000;15:1903–5.
   PubMed Web of Science ®Google Scholar