Autosomal recessive familial neurohypophyseal diabetes insipidus: Onset in early infancy

European Journal of Endocrinology

Volumn 162, Issue 2, 2010, Pages 221-226

  Libdeh, Abdulsalam Abu ^a   Levy Khademi, Floris ^a   Abdulhadi Atwan, Maha ^a   Bosin, Emily ^b   Korner, Mira ^c   White, Perrin C ^d   Zangen, David H ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^c HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^d UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN 2; ARGIPRESSIN; DESMOPRESSIN; HORMONE PRECURSOR; LEUCINE; NEUROPHYSIN; PROLINE; UNCLASSIFIED DRUG; VASOPRESSIN RECEPTOR; VASOPRESSIN RECEPTOR 2;

ALLELE; AMINO ACID SUBSTITUTION; AQP2 GENE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DIABETES INSIPIDUS; DIAGNOSTIC IMAGING; FAILURE TO THRIVE; FAMILIAL NEUROHYPOPHYSEAL DIABETES INSIPIDUS; FEMALE; FEVER; FOUNDER EFFECT; GENE; GENE LOCUS; HOMOZYGOTE; HUMAN; HYPERNATREMIA; HYPEROSMOLALITY; IMAGE ANALYSIS; INFANT; IRRITABILITY; MALE; MICROSATELLITE MARKER; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECEPTOR GENE; SYMPTOM; URINE OSMOLALITY; V2R GENE; VOMITING;

ADOLESCENT; AGE OF ONSET; ARABS; ARGININE VASOPRESSIN; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DIABETES INSIPIDUS, NEUROGENIC; FAMILY HEALTH; FEMALE; GENES, RECESSIVE; HUMANS; HYPERNATREMIA; INFANT; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; MUTATION, MISSENSE; PEDIGREE;

EID: 75149125745     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-09-0772     Document Type: Article

References (30)

1. Baylis PH & Robertson GL. Vasopressin function in familial cranial diabetes insipidus. Postgraduate Medical Journal 1981 57 36-40.
2. Kaplowitz PB, D'Ercole AJ & Robertson GL. Radioimmunoassay of vasopressin in familial central diabetes insipidus. Journal of Pediatrics 1982 100 76-81.
3. Krawczak M, Ball EV, Fenton I, Stenson PD, Abeysinghe S, Thomas N & Cooper DN. Human gene mutation database - a biomedical information and research resources. Human Mutation 2000 15 45-51.
4. Robertson GL. Diabetes insipidus. Endocrinology and Metabolism Clinics of North America 1995 24 549-572.
5. McLeod JF, Kovacs L, Gaskill MB, Rittig S, Bradley GS & Robertson GL. Familial neurohypophyseal diabetes insipidus associated with a single peptide mutation. Journal of Clinical Endocrinology and Metabolism 1993 77 599A-599G.
6. Mahoney CP, Weinberger E, Bryant C, Ito M, Jameson JL & Ito M. Effects of aging on vasopressin production in a kindred with autosomal dominant neurohypophyseal diabetes insipidus due to the DeltaE47 neurophysin mutation. Journal of Clinical Endocrinology and Metabolism 2002 87 870-876.
7. Elias PC, Elias LL, Torres N, Moreira AC, Antunes-Rodrigues J & Castro M. Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene. Clinical Endocrinology 2003 59 511-518.
8. Miyamoto S, Sasaki N & Tanabe Y. Magnetic resonance imaging in familial central diabetes insipidus. Neuroradiology 1991 33 272-273.
9. Fujisawa I, Nishimura K, Asato R, Togashi K, Itoh K, Noma S, Kawamura Y, Sago T, Minami S & Nakano Y. Posterior lobe of the pituitary in diabetes insipidus: MR findings. Journal of Computer Assisted Tomography 1987 11 221-225.
10. Maghnie M, Sommaruga MG, Beluffi G & Severi F. Role of MR imaging in the evaluation of the functional status of the posterior pituitary gland: the view of a pediatric endocrinologist. American Journal of Neuroradiology 1993 14 1443-1445.
11. Maghnie M, Villa A, Arico M, Larizza D, Pezzotta S, Beluffi G, Genovese E & Severi F. Correlation between magnetic resonance imaging of posterior pituitary and neurohypophyseal function in children with diabetes insipidus. Journal of Clinical Endocrinology and Metabolism 1992 74 795-800.
12. Gainer H, Yamashita M, Fields RL, House SB & Rusnak M. The magnocellular neuronal phenotype: cell-specific gene expression in the hypothalamo-neurohypophyseal system. Progress in Brain Research 2002 139 1-14.
13. Murphy D &Wells S. In vivo gene transfer studies on the regulation and function of the vasopressin and oxytocin genes. Journal of Neuroendocrinology 2003 15 109-125.
14. Repaske DR, Phillips JA, Kirby LT, Tze WJ, D'Ercole AJ & Battey J. Molecular analysis of autosomal dominant neurohypophyseal diabetes insipidus. Journal of Clinical Endocrinology and Metabolism 1990 70 752-757.
15. Riddel DC, Mallonee R, Phillips JA, Parks JS, Sexton LA & Hamerton JL. Chromosomal assignment of human sequences encoding vasopressin-neurophysin II and growth hormone releasing factor. Somatic Cell and Molecular Genetics 1985 11 189-195.
16. Sausville E, Carney D & Battey J. The human vasopressin gene is linked to the oxytocin gene and is selectively expressed in a cultured lung cancer cell line. Journal of Biological Chemistry 1985 260 10236-10241.
17. Acher R, Chauvet J & Rouille Y. Dynamic processing of neuropeptides: sequential conformation shaping of neurohypophyseal preprohormones during intraneuronal secretory transport. Journal of Molecular Neuroscience 2002 18 223-228.
18. Ito M, Mori Y, Oiso V & Saito H. A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. Journal of Clinical Investigation 1991 87 725-728.
19. Christensen JH & Rittig S. Familial neurohypophyseal diabetes insipidus - an update. Seminars in Nephrology 2006 26 209-223.
20. Willcutts MD, Felner E & White PC. Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin. Human Molecular Genetics 1999 8 1303-1307.
21. Glick SM & Kagan A. Vasopressin. In Methods of Hormone Radioimmunoassay, edn 2, pp 341-351. Eds BM Jaffe & HR Behrman, New York: Academic Press, 1979.
22. Christensen JH, Siggaard C, Corydon TJ, Robertson GL, Gregersen N, Bolund L & Rittig S. Differential cellular handling of defective arginine vasopressin (AVP) prohormones in cells expressing mutations of the AVP gene associated with autosomal dominant and recessive familial neurohypophyseal diabetes insipidus. Journal of Clinical Endocrinology and Metabolism 2004 89 4521-4531.
23. Wahlstrom JT, Fowler MJ, Nicholson WE & Kovacs WJ. A novel mutation in the preprovasopressin gene identified in a kindred with autosomal dominant neurohypophyseal diabetes insipidus. Journal of Clinical Endocrinology and Metabolism 2004 89 1963-1968.
24. Chitturi S, Harris M, Thomsett MJ, Bowling F, McGown I, Cowley D, Leong GM, Batch J & Cotterill AM. Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus. Clinical Endocrinology 2008 69 926-930.
25. Sitia R & Braakman I. Quality control in the endoplasmic reticulum protein factory. Nature 2003 426 891-894.
26. Lee MC, Miller EA, Goldberg J, Orci L & Schekman R. Bi-directional protein transport between the ER and Golgi. Annual Review of Cell and Development Biology 2004 20 87-123.
27. Lee YW, Lee KW, Ryu JW, Mok JO, Ki CS, Park HK, Kim YJ, Kim SJ, Byun DW, Suh KI, Yoo MH, Shin HB, Lee YK & Kim CH. Mutation of Glu78 of the AVP-NPII gene impairs neurophysin as a carrier protein for arginine vasopressin in a family with neurohypophyseal diabetes insipidus. Annals of Clinical and Laboratory Science 2008 38 12-14.
28. Rose JP,Wu CK, Hsiao CD, Breslow E &Wang BC. Crystal structure of the neurophysin-oxytocin complex. Nature Structural and Molecular Biology 1996 3 163-169.
29. Wu CK, Hu B, Rose JP, Liu ZJ, Nguyen TL, Zheng C, Breslow E & Wang BC. Structures of an unliganded neurophysin and its vasopressin complex: implications for binding and allosteric mechanisms. Protein Science 2001 10 1869-1880.
30. Nijenhuis M, van den Akker EL, Zalm R, Franken AA, Abbes AP, Engel H, de Wied D & Burbach JPH. Familial neurohypophysial diabetes insipidus in a large Dutch kindred: effect of the onset of diabetes on growth in children and cell biological defects of the mutant vasopressin prohormone. Journal of Clinical Endocrinology and Metabolism 2001 86 3410-3420.