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Annals of Clinical & Laboratory Science 38:12-14 (2008)
© 2008 Association of Clinical Scientists

Mutation of Glu78 of the AVP-NPII Gene Impairs Neurophysin as a Carrier Protein for Arginine Vasopressin in a Family with Neurohypophyseal Diabetes Insipidus

Yong-Wha Lee1,*, Kyung Wook Lee2,*, Ji Won Ryu2, Ji Oh Mok2, Chang-Seok Ki3, Hyeong Kyu Park2, Yeo Joo Kim2, Sang Jin Kim2, Dong Won Byun2, Kyo Ill Suh2, Myung Hi Yoo2, Hee Bong Shin1, You Kyoung Lee1 and Chul-Hee Kim2
1 Department of Laboratory Medicine, Bucheon Hospital and Soonchunhyang University College of Medicine, Bucheon; 2 Department of Internal Medicine, Soonchunhyang University College of Medicine, Bucheon; and 3 Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

Address correspondence to Chul-Hee Kim, M.D., Department of Internal Medicine, Soonchunhyang University, Bucheon Hospital, Bucheon 420-767, South Korea; tel 82 32 621 5155; fax 82 32 621 5018; e-mail chkimem{at}schbc.ac.kr.

Familial neurohypophyseal diabetes insipidus (FNDI; OMIM 192340 [OMIM] ) is a rare inherited disorder with an autosomal dominant inheritance pattern. It is characterized by persistent polydipsia and polyuria induced by deficient or absent secretion of arginine vasopressin (AVP). We report a Korean kindred in whom FNDI is associated with a novel deletion mutation in exon 2 of the AVP-NPII gene encoding the neurophysin II moiety. An 18-yr-old man with polyuria and polydipsia was shown to have central diabetes insipidus by using the water deprivation test. Four family members were suspected to have symptomatic vasopressin-deficient diabetes insipidus. Direct sequencing of the AVP-NPII gene showed a heterozygous GAG deletion mutation in exon 2, which results in in-frame deletion of glutamic acid (c.232_234delGAG; p.Glu78del). The mutation was predicted to yield an abnormal AVP precursor lacking Glu78 (E78) in its neurophysin II moiety. Because Glu78 is essential for neurophysin II molecules to form a salt bridge with AVP, the function of neurophysin as a carrier protein for AVP would be impaired. The proband’s mother and sister have the same mutation. Presence of this mutation suggests that the portion of the neurophysin peptide encoded by this sequence is important for the appropriate expression of vasopressin.

Keywords: diabetes insipidus, AVP-NPII gene, neurophysin, arginine vasopressin






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