RGD Reference Report - Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus. - Rat Genome Database

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Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus.

Authors: Chitturi, S  Harris, M  Thomsett, MJ  Bowling, F  McGown, I  Cowley, D  Leong, GM  Batch, J  Cotterill, AM 
Citation: Chitturi S, etal., Clin Endocrinol (Oxf). 2008 May 20.
RGD ID: 2301918
Pubmed: PMID:18494865   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1365-2265.2008.03303.x   (Journal Full-text)

Context: Familial Neurohypophyseal Diabetes Insipidus (FNDI) is a rare disorder resulting from AVP gene mutations. A partial defect in AVP secretion occurs early in the course of FNDI and may not be detected by a water deprivation test (WDT). Testing for AVP gene mutations may confirm a diagnosis of FNDI when a WDT is inconclusive and may also predict individuals who will later develop FNDI. Objective: To test the utility of AVP gene analysis in confirming the diagnosis of FNDI. Patients: Five families (20 subjects, 14 symptomatic and 6 asymptomatic) with FNDI and 9 children with idiopathic neurohypophyseal diabetes insipidus (INDI). Measurements: Genomic DNA was analysed for AVP gene mutations using PCR amplification and sequencing. Results: Heterozygous AVP gene mutations were found in all subjects with FNDI but none of the ICDI patients. Each family had their own distinct mutation. We identified 2 novel mutations (C44W and C105S). One asymptomatic subject developed diabetes insipidus (DI) 4 months after detection of an AVP gene mutation. The WDT suggested partial diabetes insipidus in 4/6 but was normal in 2/6 children with FNDI. Conclusion: AVP gene testing allowed diagnostic confirmation of FNDI when the WDT was inconclusive in symptomatic children therefore obviating the need for a repeat WDT and enabling earlier initiation of appropriate treatment. AVP gene testing also has the potential to identify which asymptomatic children will later develop FNDI.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
neurohypophyseal diabetes insipidus  IAGP 2301918DNA:missense mutations: :multipleRGD 
neurohypophyseal diabetes insipidus  ISOAVP (Homo sapiens)2301918; 2301918DNA:missense mutations: :multipleRGD 

Objects Annotated

Genes (Rattus norvegicus)
Avp  (arginine vasopressin)

Genes (Mus musculus)
Avp  (arginine vasopressin)

Genes (Homo sapiens)
AVP  (arginine vasopressin)


Additional Information