A common origin of the 4143insA ADAMTS13 mutation
Schneppenheim, Reinhard ; Hovinga, Johanna A. Kremer ; Becker, Jim ; Budde, Ulrich ; Karpman, Diana LU
; Brockhaus, Wolfgang
; Hrachovinova, Ingrid
; Korczowski, Bartosz
; Oyen, Florian
and Rittich, Simon
, et al.
(2006)
In Thrombosis and Haemostasis
96(1).
p.3-6
- Abstract
- Severely deficient activity of the von Willebrand Factor (VWF) cleaving metalloprotease,ADAMTS 13, is associated with thrombotic thrombocytopenic purpura (TTP). The mutation spectrum ofADAMTS 13 is rather heterogeneous, and numerous mutations spread across the gene have been described in association with congenital TTP. The 4143insA mutation is unusual with respect to its geographic concentration. Following the initial report from Germany in which the 4143insA mutation was detected in four apparently unrelated families, we have now identified this mutation in a further eleven patients from Norway, Sweden, Poland, Germany, the Czech Republic and Australia. Confirmation that the Australian patient is of German ancestry, together with the... (More)
- Severely deficient activity of the von Willebrand Factor (VWF) cleaving metalloprotease,ADAMTS 13, is associated with thrombotic thrombocytopenic purpura (TTP). The mutation spectrum ofADAMTS 13 is rather heterogeneous, and numerous mutations spread across the gene have been described in association with congenital TTP. The 4143insA mutation is unusual with respect to its geographic concentration. Following the initial report from Germany in which the 4143insA mutation was detected in four apparently unrelated families, we have now identified this mutation in a further eleven patients from Norway, Sweden, Poland, Germany, the Czech Republic and Australia. Confirmation that the Australian patient is of German ancestry, together with the Northern and Central European origin of most of the other patients, suggests that the 4143insA mutation has a common genetic background.We established ADAMTS 13 haplotypes by analyzing 17 polymorphic intragenic markers.The haplotypes linked to 4143insA were identical in all informative families. Three novel candidate mutations, C347S, P67IL and RI060W, as well as the known mutation R507Q, were also identified during the course of the study.We conclude that 4143insA has a common genetic background and is frequent among patients with hereditary ADAMTS 13 deficiency in Northern and Central European countries. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/401489
- author
- Schneppenheim, Reinhard
; Hovinga, Johanna A. Kremer
; Becker, Jim
; Budde, Ulrich
; Karpman, Diana
LU
; Brockhaus, Wolfgang
; Hrachovinova, Ingrid
; Korczowski, Bartosz
; Oyen, Florian
and Rittich, Simon
, et al. (More)
- Schneppenheim, Reinhard
; Hovinga, Johanna A. Kremer
; Becker, Jim
; Budde, Ulrich
; Karpman, Diana
LU
; Brockhaus, Wolfgang
; Hrachovinova, Ingrid
; Korczowski, Bartosz
; Oyen, Florian
; Rittich, Simon
; von Rosen, Johannes
; Tjonnfjord, Geir E.
; Pimanda, John E.
; Wienker, Thomas F.
and Laemmle, Bernhard
(Less)
- organization
- publishing date
- 2006
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- mutation, TTP, VWF, ADAMTS13
- in
- Thrombosis and Haemostasis
- volume
- 96
- issue
- 1
- pages
- 3 - 6
- publisher
- Schattauer GmbH
- external identifiers
-
- pmid:16807643
- wos:000239065600002
- scopus:33746742947
- ISSN
- 0340-6245
- DOI
- 10.1160/TH05-12-0817
- language
- English
- LU publication?
- yes
- id
- 9691ead1-ba56-4987-87a8-faa6a8420e58 (old id 401489)
- date added to LUP
- 2016-04-01 15:48:08
- date last changed
- 2022-04-22 17:27:44
@article{9691ead1-ba56-4987-87a8-faa6a8420e58,
abstract = {{Severely deficient activity of the von Willebrand Factor (VWF) cleaving metalloprotease,ADAMTS 13, is associated with thrombotic thrombocytopenic purpura (TTP). The mutation spectrum ofADAMTS 13 is rather heterogeneous, and numerous mutations spread across the gene have been described in association with congenital TTP. The 4143insA mutation is unusual with respect to its geographic concentration. Following the initial report from Germany in which the 4143insA mutation was detected in four apparently unrelated families, we have now identified this mutation in a further eleven patients from Norway, Sweden, Poland, Germany, the Czech Republic and Australia. Confirmation that the Australian patient is of German ancestry, together with the Northern and Central European origin of most of the other patients, suggests that the 4143insA mutation has a common genetic background.We established ADAMTS 13 haplotypes by analyzing 17 polymorphic intragenic markers.The haplotypes linked to 4143insA were identical in all informative families. Three novel candidate mutations, C347S, P67IL and RI060W, as well as the known mutation R507Q, were also identified during the course of the study.We conclude that 4143insA has a common genetic background and is frequent among patients with hereditary ADAMTS 13 deficiency in Northern and Central European countries.}},
author = {{Schneppenheim, Reinhard and Hovinga, Johanna A. Kremer and Becker, Jim and Budde, Ulrich and Karpman, Diana and Brockhaus, Wolfgang and Hrachovinova, Ingrid and Korczowski, Bartosz and Oyen, Florian and Rittich, Simon and von Rosen, Johannes and Tjonnfjord, Geir E. and Pimanda, John E. and Wienker, Thomas F. and Laemmle, Bernhard}},
issn = {{0340-6245}},
keywords = {{mutation; TTP; VWF; ADAMTS13}},
language = {{eng}},
number = {{1}},
pages = {{3--6}},
publisher = {{Schattauer GmbH}},
series = {{Thrombosis and Haemostasis}},
title = {{A common origin of the 4143insA ADAMTS13 mutation}},
url = {{http://dx.doi.org/10.1160/TH05-12-0817}},
doi = {{10.1160/TH05-12-0817}},
volume = {{96}},
year = {{2006}},
}