Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family

Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family

Autosomal dominant neurohypophyseal diabetes insipidus is a rare form of central diabetes insipidus that is caused by mutations in the vasopressin-neurophysin II (AVP-NPII) gene. It is characterized by persistent polydipsia and polyuria induced by deficient or absent secretion of arginine vasopressi...

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Main Authors: Myo-Jing Kim, Young-Eun Kim, Chang-Seok Ki, Jae-Ho Yoo
Format: Article
Language:English
Published: Korean Society of Pediatric Endocrinology 2014-12-01
Series:Annals of Pediatric Endocrinology & Metabolism
Subjects:
Arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal) protein
Human
Online Access:http://e-apem.org/upload/pdf/apem-19-220.pdf
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spelling doaj-6ee92331159141dab1ae0e4416457e352020-11-24T23:39:55ZengKorean Society of Pediatric EndocrinologyAnnals of Pediatric Endocrinology & Metabolism2287-10122287-12922014-12-0119422022410.6065/apem.2014.19.4.220556Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean familyMyo-Jing Kim0Young-Eun Kim1Chang-Seok Ki2Jae-Ho Yoo3Department of Pediatrics, Dong-A University College of Medicine, Busan, Korea.Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.Department of Pediatrics, Dong-A University College of Medicine, Busan, Korea.Autosomal dominant neurohypophyseal diabetes insipidus is a rare form of central diabetes insipidus that is caused by mutations in the vasopressin-neurophysin II (AVP-NPII) gene. It is characterized by persistent polydipsia and polyuria induced by deficient or absent secretion of arginine vasopressin (AVP). Here we report a case of familial neurohypophyseal diabetes insipidus in four generations of a Korean family, caused by heterozygous missense mutation in exon 2 of the AVP-NPII gene (c.286G>T). This is the first report of such a case in Korea.http://e-apem.org/upload/pdf/apem-19-220.pdfArginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal) protein Human
collection DOAJ
language English
format Article
sources DOAJ
author Myo-Jing Kim
Young-Eun Kim
Chang-Seok Ki
Jae-Ho Yoo
spellingShingle Myo-Jing Kim
Young-Eun Kim
Chang-Seok Ki
Jae-Ho Yoo
Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family
Annals of Pediatric Endocrinology & Metabolism
Arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal) protein
Human
author_facet Myo-Jing Kim
Young-Eun Kim
Chang-Seok Ki
Jae-Ho Yoo
author_sort Myo-Jing Kim
title Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family
title_short Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family
title_full Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family
title_fullStr Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family
title_full_unstemmed Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family
title_sort autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin ii gene in four generations of a korean family
publisher Korean Society of Pediatric Endocrinology
series Annals of Pediatric Endocrinology & Metabolism
issn 2287-1012
2287-1292
publishDate 2014-12-01
description Autosomal dominant neurohypophyseal diabetes insipidus is a rare form of central diabetes insipidus that is caused by mutations in the vasopressin-neurophysin II (AVP-NPII) gene. It is characterized by persistent polydipsia and polyuria induced by deficient or absent secretion of arginine vasopressin (AVP). Here we report a case of familial neurohypophyseal diabetes insipidus in four generations of a Korean family, caused by heterozygous missense mutation in exon 2 of the AVP-NPII gene (c.286G>T). This is the first report of such a case in Korea.
topic Arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal) protein
Human
url http://e-apem.org/upload/pdf/apem-19-220.pdf
work_keys_str_mv AT myojingkim autosomaldominantfamilialneurohypophysealdiabetesinsipiduscausedbyamutationintheargininevasopressiniigeneinfourgenerationsofakoreanfamily
AT youngeunkim autosomaldominantfamilialneurohypophysealdiabetesinsipiduscausedbyamutationintheargininevasopressiniigeneinfourgenerationsofakoreanfamily
AT changseokki autosomaldominantfamilialneurohypophysealdiabetesinsipiduscausedbyamutationintheargininevasopressiniigeneinfourgenerationsofakoreanfamily
AT jaehoyoo autosomaldominantfamilialneurohypophysealdiabetesinsipiduscausedbyamutationintheargininevasopressiniigeneinfourgenerationsofakoreanfamily
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