A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus
Purpose Familial neurohypophyseal diabetes insipidus (FNDI) is a rare, autosomal dominant, inherited disorder which is characterized by severe polydipsia and polyuria generally presenting in early childhood. In the present study, we aimed to analyze the AVP gene in a Turkish family with FNDI. Method...
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| Veröffentlicht in: | Journal of endocrinological investigation 2016-03, Vol.39 (3), p.285-290 |
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| creator | Ilhan, M. Tiryakioglu, N. O. Karaman, O. Coskunpinar, E. Yildiz, R. S. Turgut, S. Tiryakioglu, D. Toprak, H. Tasan, E. |
| description | Purpose
Familial neurohypophyseal diabetes insipidus (FNDI) is a rare, autosomal dominant, inherited disorder which is characterized by severe polydipsia and polyuria generally presenting in early childhood. In the present study, we aimed to analyze the AVP gene in a Turkish family with FNDI.
Methods
Four patients with neurohypophyseal diabetes insipidus and ten healthy members of the family were studied. Diabetes insipidus was diagnosed by the water deprivation test in affected family members. Mutation analysis was performed by sequencing the whole coding region of AVP-NPII gene using DNA isolated from peripheral blood samples.
Results
Urine osmolality was low (C in all patients.
Conclusion
c.-3A>C mutation in 5′UTR of AVP gene in this family might lead to the truncation of signal peptide, aggregation of AVP in the cytoplasm instead of targeting in the endoplasmic reticulum, thereby could disrupt AVP secretion without causing neuronal cytotoxicity, which might explain the presence of bright spot. The predicted effect of this mutation should be investigated by further in vitro molecular studies. |
| doi_str_mv | 10.1007/s40618-015-0357-9 |
| format | Article |
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Familial neurohypophyseal diabetes insipidus (FNDI) is a rare, autosomal dominant, inherited disorder which is characterized by severe polydipsia and polyuria generally presenting in early childhood. In the present study, we aimed to analyze the AVP gene in a Turkish family with FNDI.
Methods
Four patients with neurohypophyseal diabetes insipidus and ten healthy members of the family were studied. Diabetes insipidus was diagnosed by the water deprivation test in affected family members. Mutation analysis was performed by sequencing the whole coding region of AVP-NPII gene using DNA isolated from peripheral blood samples.
Results
Urine osmolality was low (<300 mOsm/kg) during water deprivation test, and an increase more than 50 % in urine osmolality and recovery of the symptoms were observed by the administration of desmopressin in all patients. Plasma copeptin levels were lower than expected according to plasma osmolality. Pituitary MRI revealed partial empty sella with a bright spot in index patient and a normal neurohypophysis in the other affected subjects. Genetic screening revealed a novel, heterozygous mutation designated as c.-3A>C in all patients.
Conclusion
c.-3A>C mutation in 5′UTR of AVP gene in this family might lead to the truncation of signal peptide, aggregation of AVP in the cytoplasm instead of targeting in the endoplasmic reticulum, thereby could disrupt AVP secretion without causing neuronal cytotoxicity, which might explain the presence of bright spot. The predicted effect of this mutation should be investigated by further in vitro molecular studies.</description><identifier>ISSN: 1720-8386</identifier><identifier>EISSN: 1720-8386</identifier><identifier>DOI: 10.1007/s40618-015-0357-9</identifier><identifier>PMID: 26208472</identifier><language>eng</language><publisher>Cham: Springer International Publishing</publisher><subject>Adult ; Case-Control Studies ; Diabetes Insipidus, Neurogenic - diagnosis ; Diabetes Insipidus, Neurogenic - genetics ; Endocrinology ; Family ; Female ; Follow-Up Studies ; Humans ; Male ; Medicine ; Medicine & Public Health ; Metabolic Diseases ; Middle Aged ; Mutation - genetics ; Neurophysins - genetics ; Original Article ; Pedigree ; Prognosis ; Protein Precursors - genetics ; Turkey ; Vasopressins - genetics ; Young Adult</subject><ispartof>Journal of endocrinological investigation, 2016-03, Vol.39 (3), p.285-290</ispartof><rights>Italian Society of Endocrinology (SIE) 2015</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c344t-e98c6736e59bced5d48b5ebcd3457de3bf84d35af8435282048e5c5d736ff0c3</citedby><cites>FETCH-LOGICAL-c344t-e98c6736e59bced5d48b5ebcd3457de3bf84d35af8435282048e5c5d736ff0c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s40618-015-0357-9$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s40618-015-0357-9$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>315,782,786,27933,27934,41497,42566,51328</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26208472$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ilhan, M.</creatorcontrib><creatorcontrib>Tiryakioglu, N. O.</creatorcontrib><creatorcontrib>Karaman, O.</creatorcontrib><creatorcontrib>Coskunpinar, E.</creatorcontrib><creatorcontrib>Yildiz, R. S.</creatorcontrib><creatorcontrib>Turgut, S.</creatorcontrib><creatorcontrib>Tiryakioglu, D.</creatorcontrib><creatorcontrib>Toprak, H.</creatorcontrib><creatorcontrib>Tasan, E.</creatorcontrib><title>A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus</title><title>Journal of endocrinological investigation</title><addtitle>J Endocrinol Invest</addtitle><addtitle>J Endocrinol Invest</addtitle><description>Purpose
Familial neurohypophyseal diabetes insipidus (FNDI) is a rare, autosomal dominant, inherited disorder which is characterized by severe polydipsia and polyuria generally presenting in early childhood. In the present study, we aimed to analyze the AVP gene in a Turkish family with FNDI.
Methods
Four patients with neurohypophyseal diabetes insipidus and ten healthy members of the family were studied. Diabetes insipidus was diagnosed by the water deprivation test in affected family members. Mutation analysis was performed by sequencing the whole coding region of AVP-NPII gene using DNA isolated from peripheral blood samples.
Results
Urine osmolality was low (<300 mOsm/kg) during water deprivation test, and an increase more than 50 % in urine osmolality and recovery of the symptoms were observed by the administration of desmopressin in all patients. Plasma copeptin levels were lower than expected according to plasma osmolality. Pituitary MRI revealed partial empty sella with a bright spot in index patient and a normal neurohypophysis in the other affected subjects. Genetic screening revealed a novel, heterozygous mutation designated as c.-3A>C in all patients.
Conclusion
c.-3A>C mutation in 5′UTR of AVP gene in this family might lead to the truncation of signal peptide, aggregation of AVP in the cytoplasm instead of targeting in the endoplasmic reticulum, thereby could disrupt AVP secretion without causing neuronal cytotoxicity, which might explain the presence of bright spot. The predicted effect of this mutation should be investigated by further in vitro molecular studies.</description><subject>Adult</subject><subject>Case-Control Studies</subject><subject>Diabetes Insipidus, Neurogenic - diagnosis</subject><subject>Diabetes Insipidus, Neurogenic - genetics</subject><subject>Endocrinology</subject><subject>Family</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Humans</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Metabolic Diseases</subject><subject>Middle Aged</subject><subject>Mutation - genetics</subject><subject>Neurophysins - genetics</subject><subject>Original Article</subject><subject>Pedigree</subject><subject>Prognosis</subject><subject>Protein Precursors - genetics</subject><subject>Turkey</subject><subject>Vasopressins - genetics</subject><subject>Young Adult</subject><issn>1720-8386</issn><issn>1720-8386</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kMtOwzAQRS0EoqXwAWyQl2wCThzHzrKqeEmVYFF1aznxpHHJCzsB5e9xlYJYsZqR5twrzUHoOiR3ISH83sUkCUVAQhYQyniQnqB5yCMSCCqS0z_7DF04tyeEcir4OZpFSUREzKM52i5x035ChZfbN7yDBnA99Ko3bYNNgxXeDPbduBIXqjbViL9MX-IGBtuWY9d25ehAVVgblUEPzkec6Ywe3CU6K1Tl4Oo4F2jz-LBZPQfr16eX1XId5DSO-wBSkSecJsDSLAfNdCwyBlmuacy4BpoVItaUKT8oi0REYgEsZ9pHioLkdIFup9rOth8DuF7WxuVQVaqBdnAy5AknCU-J8Gg4obltnbNQyM6aWtlRhkQebMrJpvQ25cGmTH3m5lg_ZDXo38SPPg9EE-D8qdmBlft2sI3_-J_Wb0MMgI4</recordid><startdate>20160301</startdate><enddate>20160301</enddate><creator>Ilhan, M.</creator><creator>Tiryakioglu, N. O.</creator><creator>Karaman, O.</creator><creator>Coskunpinar, E.</creator><creator>Yildiz, R. S.</creator><creator>Turgut, S.</creator><creator>Tiryakioglu, D.</creator><creator>Toprak, H.</creator><creator>Tasan, E.</creator><general>Springer International Publishing</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20160301</creationdate><title>A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus</title><author>Ilhan, M. ; Tiryakioglu, N. O. ; Karaman, O. ; Coskunpinar, E. ; Yildiz, R. S. ; Turgut, S. ; Tiryakioglu, D. ; Toprak, H. ; Tasan, E.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c344t-e98c6736e59bced5d48b5ebcd3457de3bf84d35af8435282048e5c5d736ff0c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Adult</topic><topic>Case-Control Studies</topic><topic>Diabetes Insipidus, Neurogenic - diagnosis</topic><topic>Diabetes Insipidus, Neurogenic - genetics</topic><topic>Endocrinology</topic><topic>Family</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>Humans</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Metabolic Diseases</topic><topic>Middle Aged</topic><topic>Mutation - genetics</topic><topic>Neurophysins - genetics</topic><topic>Original Article</topic><topic>Pedigree</topic><topic>Prognosis</topic><topic>Protein Precursors - genetics</topic><topic>Turkey</topic><topic>Vasopressins - genetics</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ilhan, M.</creatorcontrib><creatorcontrib>Tiryakioglu, N. O.</creatorcontrib><creatorcontrib>Karaman, O.</creatorcontrib><creatorcontrib>Coskunpinar, E.</creatorcontrib><creatorcontrib>Yildiz, R. S.</creatorcontrib><creatorcontrib>Turgut, S.</creatorcontrib><creatorcontrib>Tiryakioglu, D.</creatorcontrib><creatorcontrib>Toprak, H.</creatorcontrib><creatorcontrib>Tasan, E.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of endocrinological investigation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ilhan, M.</au><au>Tiryakioglu, N. O.</au><au>Karaman, O.</au><au>Coskunpinar, E.</au><au>Yildiz, R. S.</au><au>Turgut, S.</au><au>Tiryakioglu, D.</au><au>Toprak, H.</au><au>Tasan, E.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus</atitle><jtitle>Journal of endocrinological investigation</jtitle><stitle>J Endocrinol Invest</stitle><addtitle>J Endocrinol Invest</addtitle><date>2016-03-01</date><risdate>2016</risdate><volume>39</volume><issue>3</issue><spage>285</spage><epage>290</epage><pages>285-290</pages><issn>1720-8386</issn><eissn>1720-8386</eissn><abstract>Purpose
Familial neurohypophyseal diabetes insipidus (FNDI) is a rare, autosomal dominant, inherited disorder which is characterized by severe polydipsia and polyuria generally presenting in early childhood. In the present study, we aimed to analyze the AVP gene in a Turkish family with FNDI.
Methods
Four patients with neurohypophyseal diabetes insipidus and ten healthy members of the family were studied. Diabetes insipidus was diagnosed by the water deprivation test in affected family members. Mutation analysis was performed by sequencing the whole coding region of AVP-NPII gene using DNA isolated from peripheral blood samples.
Results
Urine osmolality was low (<300 mOsm/kg) during water deprivation test, and an increase more than 50 % in urine osmolality and recovery of the symptoms were observed by the administration of desmopressin in all patients. Plasma copeptin levels were lower than expected according to plasma osmolality. Pituitary MRI revealed partial empty sella with a bright spot in index patient and a normal neurohypophysis in the other affected subjects. Genetic screening revealed a novel, heterozygous mutation designated as c.-3A>C in all patients.
Conclusion
c.-3A>C mutation in 5′UTR of AVP gene in this family might lead to the truncation of signal peptide, aggregation of AVP in the cytoplasm instead of targeting in the endoplasmic reticulum, thereby could disrupt AVP secretion without causing neuronal cytotoxicity, which might explain the presence of bright spot. The predicted effect of this mutation should be investigated by further in vitro molecular studies.</abstract><cop>Cham</cop><pub>Springer International Publishing</pub><pmid>26208472</pmid><doi>10.1007/s40618-015-0357-9</doi><tpages>6</tpages></addata></record> |
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| subjects | Adult Case-Control Studies Diabetes Insipidus, Neurogenic - diagnosis Diabetes Insipidus, Neurogenic - genetics Endocrinology Family Female Follow-Up Studies Humans Male Medicine Medicine & Public Health Metabolic Diseases Middle Aged Mutation - genetics Neurophysins - genetics Original Article Pedigree Prognosis Protein Precursors - genetics Turkey Vasopressins - genetics Young Adult |
| title | A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus |
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