Linked Life Data

20938102

Source:http://linkedlifedata.com/resource/pubmed/id/20938102

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2011-1-5
pubmed:abstractText
Familial lecithin: cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder characterized by corneal opacity, hemolytic anemia, proteinuria, and a low serum level of high-density lipoprotein cholesterol (HDL-C). Also, LCAT activity is remarkably decreased or absent. A 57-year-old Japanese man presented with corneal opacity, proteinuria, and a very low serum level of HDL-C. His LCAT activity was too low to measure. From clinical observations and results of examinations, we suspected LCAT deficiency. We performed a kidney biopsy and gene analysis. Light microscopy revealed the vacuolation of glomerular capillary tufts. Electron microscopy revealed small deposits in the glomerular basement membrane (GBM), extracellular matrix, and vascular endothelial cells. We identified a homozygous C to T point mutation at nucleotide 501 (g.501 C>T) of exon 4 at codon 140, resulting in an arginine (Arg) to cysteine (Cys) amino acid substitution (A140C) in the patient. These findings were characteristic of LCAT deficiency, which was confirmed to be due to a mutation that has only been reported in Japan.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1880-3873
pubmed:author
pubmed:issnType
Electronic
pubmed:day
26
pubmed:volume
17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1297-301
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Point mutation (C to T) of the LCAT gene resulting in A140C substitution.
pubmed:affiliation
Department of Nephrology, Hiroshima University Hospital, Minato-ku, Hiroshima, Japan. hirashio@hiroshima-u.ac.jp
pubmed:publicationType
Journal Article, Case Reports