A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency : Clinical Chemical Laboratory Medicine Jump to ContentJump to Main Navigation
Show Summary Details

Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Schlattmann, Peter / Tate, Jillian R.


IMPACT FACTOR increased in 2015: 3.017
Rank 5 out of 30 in category Medical Laboratory Technology in the 2014 Thomson Reuters Journal Citation Report/Science Edition

SCImago Journal Rank (SJR) 2015: 0.873
Source Normalized Impact per Paper (SNIP) 2015: 0.982
Impact per Publication (IPP) 2015: 2.238

249,00 € / $374.00 / £187.00*

Online
ISSN
1437-4331
See all formats and pricing

 


Select Volume and Issue
Loading journal volume and issue information...

30,00 € / $42.00 / £23.00

Get Access to Full Text

A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency

Bernhard U. Bender1 / Thomas Quaschning2 / Hartmut P.H. Neumann3 / Dieter Schmidt4 / Annette Kraemer-Guth5

1Department of Nephrology, University Hospital Freiburg, Freiburg, Germany
The first two authors contributed equally to this work.

2Department of Nephrology, University Hospital Freiburg, Freiburg, Germany

3Department of Nephrology, University Hospital Freiburg, Freiburg, Germany

4Department of Ophthalmology, University Hospital Freiburg, Freiburg, Germany

5Department of Nephrology, University Hospital Freiburg, Freiburg, Germany

Corresponding author: PD Dr. Annette Kraemer-Guth, Medizinische Universitätsklinik, Hugstetterstr. 55, 79106 Freiburg, Germany Phone: +49-761-1303244, Fax: +49-761-131384,

Citation Information: Clinical Chemical Laboratory Medicine. Volume 45, Issue 4, Pages 483–486, ISSN (Online) 14346621, ISSN (Print) 14374331, DOI: 10.1515/CCLM.2007.102, April 2007

Publication History

Received:
2006-11-12
Accepted:
2007-01-16
Published Online:
2007-04-17

Abstract

Background: The lecithin:cholesterol acyltransferase (LCAT) gene is located on the long arm of chromosome 16 and encodes a highly conserved enzyme that catalyzes the formation of most plasma lipoprotein cholesteryl esters. Two autosomal recessive disorders, familial LCAT deficiency (FLD) and fish eye disease, are associated with germline LCAT mutations. Patients with FLD and fish-eye disease frequently present with corneal opacity, anemia and renal failure with proteinuria.

Methods: We clinically and biochemically characterized a German patient with classical FLD and used molecular genetic analysis to identify a novel homozygous LCAT mutation within codon 178.

Results: The insertion of adenine identified is located in one of the two motifs that resemble sequences found in several lipases, and results in a frameshift with a stop codon at residue 214. Therefore, the mutation alters a large portion of the LCAT enzyme, including both protein regions with putative lipase activity. Clinically, the female patient presented with corneal opacity, mild anemia and a slow deterioration in kidney function that led to a requirement for hemodialysis until she received a renal transplant.

Conclusions: The present data provide additional insights into the genotype/phenotype correlations of FLD and thus may improve the genetic diagnosis of this interesting inborn error of metabolism.

Clin Chem Lab Med 2007;45:483–6.

Keywords: chromosome 16; corneal opacity; LCAT deficiency; LCAT gene mutation; lecithin:cholesterol acyltransferase (LCAT); renal failure

Citing Articles

Here you can find all Crossref-listed publications in which this article is cited. If you would like to receive automatic email messages as soon as this article is cited in other publications, simply activate the “Citation Alert” on the top of this page.

[1]
Cheol Whee Park, Mi-Hyun Lim, Dong-Ye Youn, Seung Eun Jung, Sungjin Chung, Young Soo Ahn, Yoon Sik Chang, and Jeong-Hwa Lee
Atherosclerosis, 2009, Volume 206, Number 2, Page 346

Comments (0)

Please log in or register to comment.