A common origin of the 4143insA ADAMTS13 mutation.
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A common origin of the 4143insA ADAMTS13 mutation. / Schneppenheim, Reinhard; Hovinga, Kremer; Johanna, A; Becker, Tim; Ulrich, Budde; Karpman, Diana; Brockhaus, Wolfgang; Hrachovinová, Ingrid; Oyen, Florian; Oyen, Florian; Rittich, Simon; von Rosen, Johannes; Tjønnfjord, Geir E; Pimanda, John E; Wienker, Thomas F; Lämmle, Bernhard.
In: THROMB HAEMOSTASIS, Vol. 96, No. 1, 1, 2006, p. 3-6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - A common origin of the 4143insA ADAMTS13 mutation.
AU - Schneppenheim, Reinhard
AU - Hovinga, Kremer
AU - Johanna, A
AU - Becker, Tim
AU - Ulrich, Budde
AU - Karpman, Diana
AU - Brockhaus, Wolfgang
AU - Hrachovinová, Ingrid
AU - Oyen, Florian
AU - Oyen, Florian
AU - Rittich, Simon
AU - von Rosen, Johannes
AU - Tjønnfjord, Geir E
AU - Pimanda, John E
AU - Wienker, Thomas F
AU - Lämmle, Bernhard
PY - 2006
Y1 - 2006
N2 - Severely deficient activity of the von Willebrand Factor (VWF) cleaving metalloprotease, ADAMTS13, is associated with thrombotic thrombocytopenic purpura (TTP). The mutation spectrum ofADAMTS13 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 ADAMTS13 haplotypes by analyzing 17 polymorphic intragenic markers. The haplotypes linked to 4143insA were identical in all informative families. Three novel candidate mutations, C347S, P671L and R1060W, 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 ADAMTS13 deficiency in Northern and Central European countries.
AB - Severely deficient activity of the von Willebrand Factor (VWF) cleaving metalloprotease, ADAMTS13, is associated with thrombotic thrombocytopenic purpura (TTP). The mutation spectrum ofADAMTS13 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 ADAMTS13 haplotypes by analyzing 17 polymorphic intragenic markers. The haplotypes linked to 4143insA were identical in all informative families. Three novel candidate mutations, C347S, P671L and R1060W, 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 ADAMTS13 deficiency in Northern and Central European countries.
M3 - SCORING: Zeitschriftenaufsatz
VL - 96
SP - 3
EP - 6
JO - THROMB HAEMOSTASIS
JF - THROMB HAEMOSTASIS
SN - 0340-6245
IS - 1
M1 - 1
ER -
