Linked Life Data

17192724

Source:http://linkedlifedata.com/resource/pubmed/id/17192724

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2007-2-7
pubmed:abstractText
Here, we report the aquaporin 2 (AQP2) mutational analysis of a patient with nephrogenic diabetes insipidus heterozygote due to two novel missense mutations. Direct sequencing of DNA in the male patient revealed that he was compound heterozygote for two mutations in the AQP2 gene: a thymine-to-adenine transversion at position 450 (c.450T>A) in exon 2 and a guanine-to-thymine at nucleotide position 643 (c.643G>T) in exon 4. The double heterozygous 450T>A and 643G>T transversion causes the amino acid substitution D150E and G215C. Direct sequencing of exons 2 and 4 of the AQP2 gene from each of the parents revealed that the c.450T>A mutation was inherited from the father while the c.643G>T mutation was inherited from the mother. Analysis of AQP2 excretion demonstrated that no AQP2 was detectable in the urine of the proband, whereas normal AQP2 levels were measured in both parents. When expressed in renal cells, both proteins were retarded in the endoplasmic reticulum and no redistribution was observed after forskolin stimulation. Of note, homology modeling revealed that the two mutations involve two highly conserved residues providing important clues about the role of the wt residues in AQP2 stability and function.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1660-2137
pubmed:author
pubmed:copyrightInfo
Copyright 2007 S. Karger AG, Basel.
pubmed:issnType
Electronic
pubmed:volume
105
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
p33-41
pubmed:dateRevised
2008-4-8
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Characterization of two novel missense mutations in the AQP2 gene causing nephrogenic diabetes insipidus.
pubmed:affiliation
Department of Biochemistry and Biomedical Technologies, University Federico II--CEINGE, Naples, Italy.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't