Advanced

An extra cysteine in one of the non calcium binding EGF-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome

Ståhl Hallengren, Christina LU ; Ukkonen, T; Kainulainen, K; Kristofersson, Ulf; Saxne, Tore LU ; Tornqvist, Kristina and Peltonen, Leena (1994) In Journal of Clinical Investigation 94. p.709-713
Abstract
We present here a family with a clinical phenotype resembling Marfan syndrome (MFS), and displaying joint contracture and episodes of knee joint effusions, but lacking the cardiovascular features of the syndrome. The phenotype of this family represents a unique mixture of connective tissue symptoms, some of which are found in classical MFS and some of which are typical of dominant ectopia lentis. Linkage analyses suggested a linkage (LOD score 2.4; theta = 0) between the phenotype of the family and a polymorphic marker in the vicinity of the fibrillin locus on chromosome 15 (FBN1). Furthermore, a novel transition mutation was identified in the FBN1 gene in all the affected members of the family. In contrast to the majority of fibrillin... (More)
We present here a family with a clinical phenotype resembling Marfan syndrome (MFS), and displaying joint contracture and episodes of knee joint effusions, but lacking the cardiovascular features of the syndrome. The phenotype of this family represents a unique mixture of connective tissue symptoms, some of which are found in classical MFS and some of which are typical of dominant ectopia lentis. Linkage analyses suggested a linkage (LOD score 2.4; theta = 0) between the phenotype of the family and a polymorphic marker in the vicinity of the fibrillin locus on chromosome 15 (FBN1). Furthermore, a novel transition mutation was identified in the FBN1 gene in all the affected members of the family. In contrast to the majority of fibrillin mutations reported so far, this mutation substitutes a cysteine for arginine, producing an extra cysteine in one of the non-calcium-binding EGF-like motifs of the fibrillin polypeptide, most probably disturbing the formation of one of the three disulfide bridges known to be essential for the normal conformation of this motif. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Marfan syndrome, EGF-like motifs, FBM1 polypeptide
in
Journal of Clinical Investigation
volume
94
pages
709 - 713
publisher
American Society for Clinical Investigation
ISSN
0021-9738
language
English
LU publication?
yes
id
9fae6415-41fd-446d-9891-f459767bf469
date added to LUP
2016-05-07 10:05:59
date last changed
2016-07-15 11:12:07
@misc{9fae6415-41fd-446d-9891-f459767bf469,
  abstract     = {We present here a family with a clinical phenotype resembling Marfan syndrome (MFS), and displaying joint contracture and episodes of knee joint effusions, but lacking the cardiovascular features of the syndrome. The phenotype of this family represents a unique mixture of connective tissue symptoms, some of which are found in classical MFS and some of which are typical of dominant ectopia lentis. Linkage analyses suggested a linkage (LOD score 2.4; theta = 0) between the phenotype of the family and a polymorphic marker in the vicinity of the fibrillin locus on chromosome 15 (FBN1). Furthermore, a novel transition mutation was identified in the FBN1 gene in all the affected members of the family. In contrast to the majority of fibrillin mutations reported so far, this mutation substitutes a cysteine for arginine, producing an extra cysteine in one of the non-calcium-binding EGF-like motifs of the fibrillin polypeptide, most probably disturbing the formation of one of the three disulfide bridges known to be essential for the normal conformation of this motif.},
  author       = {Ståhl Hallengren, Christina and Ukkonen, T and Kainulainen, K and Kristofersson, Ulf and Saxne, Tore and Tornqvist, Kristina and Peltonen, Leena},
  issn         = {0021-9738},
  keyword      = {Marfan syndrome,EGF-like motifs,FBM1 polypeptide},
  language     = {eng},
  pages        = {709--713},
  publisher    = {ARRAY(0x7e88220)},
  series       = {Journal of Clinical Investigation},
  title        = {An extra cysteine in one of the non calcium binding EGF-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome},
  volume       = {94},
  year         = {1994},
}