Abstract
The identification, characterization, and mutational analysis of three different genes, namely the prepro-arginine-vasopressin-neurophysin II gene (prepro-AVP-NPII), the arginine-vasopressin receptor 2 gene (AVPR2), and the vasopressin-sensitive water channel gene (aquaporin-2, AQP2), provide the basis for our understanding of three different hereditary forms of diabetes insipidus: autosomal dominant neurogenic diabetes insipidus, X-linked nephrogenic diabetes insipidus, and autosomal recessive nephrogenic diabetes insipidus, respectively. These advances provide diagnostic tools for physicians caring for these patients.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Amino Acid Sequence
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Aquaporin 2
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Aquaporin 6
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Aquaporins*
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Arginine Vasopressin / genetics*
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Base Sequence / genetics
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Chromosome Aberrations / genetics
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Chromosome Disorders
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DNA Mutational Analysis
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Diabetes Insipidus / genetics*
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Genes, Recessive
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Genetic Carrier Screening
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Humans
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Ion Channels / genetics*
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Molecular Sequence Data
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Neurophysins / genetics*
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Oxytocin*
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Pedigree
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Protein Precursors / genetics*
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Receptors, Vasopressin / genetics*
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Sex Chromosome Aberrations / genetics
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X Chromosome
Substances
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AQP2 protein, human
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Aquaporin 2
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Aquaporin 6
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Aquaporins
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Ion Channels
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Neurophysins
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Protein Precursors
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Receptors, Vasopressin
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Arginine Vasopressin
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Oxytocin