Late-onset familial neurohypophyseal diabetes insipidus due to a novel mutation in the AVP gene

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Fältnamn	Indikatorer	Metadata
000		03918naa a2200361 4500
001		oai:DiVA.org:oru-27352
003		SwePub
008		130206s2012 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-273522 URI
024	7	a https://doi.org/10.1111/j.1365-2265.2012.04417.x2 DOI
040		a (SwePub)oru
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Jendle, Johan,d 1963-u Örebro universitet,Institutionen för hälsovetenskap och medicin,Endocrine and Diabetes Center, Karlstad Hospital, Karlstad, Sweden4 aut0 (Swepub:oru)jje
245	1 0	a Late-onset familial neurohypophyseal diabetes insipidus due to a novel mutation in the AVP gene
264		c 2012-09-11
264	1	a Hoboken, USA :b Wiley-Blackwell,c 2012
338		a print2 rdacarrier
520		a Objective: Familial neurohypophyseal diabetes insipidus (FNDI) is mainly an autosomal dominant inherited disorder presenting with severe polydipsia and polyuria in early childhood. In this study, we aimed to determine the molecular genetics and clinical characteristics of a large Swedish-Norwegian family presenting with very late-onset autosomal dominant FNDI.Patients: Six probands with a history of developing polyuria and polydipsia during adolescence were studied.Measurements: Information on family demography was collected by personal interview with family members. The genetic cause of FNDI was identified by DNA sequencing analysis of the coding regions of the AVP gene. The clinical characteristics were determined by the measurement of basal urine production and osmolality as well as by measurements of concurrent levels of plasma AVP, plasma osmolality, and urine osmolality during fluid deprivation and bolus injection of DDAVP. The integrity of the neurohypophysis was evaluated by magnetic resonance imaging.Results: The mean age of encountering the first clinical symptoms in the family was 14·8 years (range 3-30 years) (n = 17). All six affected subjects investigated were heterozygous for a novel mutation in the AVP gene (g.1848C>T) predicting a p.Pro84Leu substitution in the AVP precursor protein. We found partial deficiency in evoked AVP secretion during fluid deprivation in one subject and complete deficiency in another. The pituitary bright spot was absent in all six affected subjects studied.Conclusion: A novel mutation in the AVP gene predicted to cause a neurophysin II dimerization defect is causing surprisingly late onset of FNDI in a large, six generation, Swedish-Norwegian family. The mutation is associated with both complete and partial deficiency in evoked AVP secretion during fluid deprivation in patients who have suffered from FNDI for decades.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Endokrinologi och diabetes0 (SwePub)302052 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Endocrinology and Diabetes0 (SwePub)302052 hsv//eng
653		a Medicin
653		a Medicine
700	1	a Christensen, Jane H.u Department of Biomedicine, Aarhus University, Aarhus, Denmark; Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark4 aut
700	1	a Kvistgaard, Heleneu Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark4 aut
700	1	a Gregersen, Nielsu Research Unit for Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark4 aut
700	1	a Rittig, Sørenu Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark4 aut
710	2	a Örebro universitetb Institutionen för hälsovetenskap och medicin4 org
773	0	t Clinical Endocrinologyd Hoboken, USA : Wiley-Blackwellg 77:4, s. 586-592q 77:4<586-592x 0300-0664x 1365-2265
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-27352
856	4 8	u https://doi.org/10.1111/j.1365-2265.2012.04417.x

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Av författaren/redakt...: Jendle, Johan, 1 ...; Christensen, Jan ...; Kvistgaard, Hele ...; Gregersen, Niels; Rittig, Søren

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