Exp Clin Endocrinol Diabetes 2001; 109(8): 406-409
DOI: 10.1055/s-2001-18994
Articles

© Johann Ambrosius Barth

A new mutation of the arginine vasopressin-neurophysin II gene in a family with autosomal dominant neurohypophyseal diabetes insipidus

J. Mundschenk 1 , S. Rittig 2 , C. Siggaard 2 , J. Hensen 3 , H. Lehnert 1
  • 1 Department of Endocrinology and Metabolism, University of Magdeburg, Germany
  • 2 Department of Pediatrics, Skejby University Hospital of Aarhus, Denmark
  • 3 Department of Internal Medicine, Hannover Nordstadt Hospital, Germany
Further Information

Publication History

Publication Date:
13 December 2001 (online)

Summary:

Familial neurohypophyseal diabetes insipidus (FNDI) is an autosomally dominant inherited disorder with a typical onset at one to six years of age. The genetic locus of FNDI is the arginine vasopressin-neurophysin II (AVP-NPII) gene. The gene encoding the precursor hormone (prepro-AVP-neurophysin II) is located in the chromosomal region 20p13 and contains three exons. Mutations that cause FNDI have been found to occur within the signal peptide of the prepro-AVP-neurophysin II precursor, within the coding sequence for neurophysin II and the vasopressin-coding sequence. - A family (four members with FNDI, two without FNDI) in three consecutive generations was investigated. - Index case was a now 22-year old man with a history of severe polyuria (18 L/day) and polydipsia first recognized at about 4-5 months of age. - The arginine vasopressin-neurophysin II gene was investigated by direct sequencing of PCR products amplified from each exon. Subsequently, a restriction analysis was performed to verify the sequencing results. - The affected individuals were found to have a missense mutation in exon 2 at nucleotide position 1887 (G to C) of the AVP-NPII gene. Using both restriction enzyme digestion and sequence analysis, the mutation was found in all affected family members, but not in the unaffected members studied. This mutation (1887 G to C) represents a novel mutation of the AVP-NPII gene.

References

Prof. Dr. Hendrik Lehnert

Department of Endocrinology and Metabolism

University Hospital of Magdeburg

Leipziger Str. 44

D-39120 Magdeburg

Germany

Phone: + 49-3 91-67-1 54 45

Fax: + 49-3 91-67-1 54 48

Email: hendrik.lehnert@medizin.uni-magdeburg.de

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