Linked Life Data

8394527

Source:http://linkedlifedata.com/resource/pubmed/id/8394527

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1993-9-10
pubmed:abstractText
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations at the PKD1 locus in most families. This locus has been assigned to the short arm of chromosome 16 by linkage analysis. It has been estimated that approximately 5% of families have a disease that does not map to this locus and most of these families have clinical features indistinguishable from the disease caused by PKD1 mutations. We report a large three-generation Caucasian family from Northern Ireland with ADPKD in whom all affected individuals (age range 22-68) were normotensive and only the two eldest had mild renal impairment. Linkage was excluded between the disease and both the alpha-globin gene complex and the microsatellite marker D16S283. This family confirms that phenotypic heterogeneity exists between unlinked families and that certain non-PKD1 mutations cause mild disease expression. Many such individuals may therefore remain undetected and the incidence of families with ADPKD who have non-PKD1 mutations may be greater than previously estimated.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0931-0509
pubmed:author
pubmed:issnType
Print
pubmed:volume
8
pubmed:geneSymbol
PKD1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
491-4
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Autosomal dominant polycystic kidney disease with minimal clinical expression unlinked to the PKD1 locus.
pubmed:affiliation
Mary G. McGeown Nephrology Unit, Belfast City Hospital, UK.
pubmed:publicationType
Journal Article