Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia

K Liu; Maurizio Martini; Bianca Rocca; Ci Amos; Luciana Teofili; F Giona; J Ding; H Komatsu; Luigi Maria Larocca; Rc Skoda

doi:10.3324/haematol.2009.005918

Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia

K Liu, Maurizio Martini, Bianca Rocca, Ci Amos, Luciana Teofili, F Giona, J Ding, H Komatsu, Luigi Maria Larocca, Rc Skoda

Risultato della ricerca: Contributo in rivista › Articolo in rivista

42 Citazioni (Scopus)

Abstract

Hereditary thrombocythemia is a rare disease characterized by increased megakaryopoiesis and overproduction of platelets. Germ line mutations have been identified in the genes for thrombopoietin (THPO) and its receptor, MPL. A clustering of familial cases with the MPL-G1073A mutation that results in a serine to asparagine substitution (S505N) has been recently reported in Italy. Here we performed haplotype analysis in nine families (eight Italian and one Japanese) with hereditary thrombocythemia carrying the MPL-S505N mutation in the MPL gene.

Lingua originale	English
pagine (da-a)	1368-1374
Numero di pagine	7
Rivista	Haematologica
Volume	94
DOI	https://doi.org/10.3324/haematol.2009.005918
Stato di pubblicazione	Pubblicato - 2009

Keywords

Adolescent
Adult
Asian Continental Ancestry Group
Child
Child, Preschool
European Continental Ancestry Group
Evidence-Based Medicine
Female
Founder Effect
Haplotypes
Humans
Infant
Italy
Male
Microsatellite Repeats
Middle Aged
Mutation
Pedigree
Receptors, Thrombopoietin
Thrombocytosis
Thrombopoietin
Young Adult

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10.3324/haematol.2009.005918

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abstract = "Hereditary thrombocythemia is a rare disease characterized by increased megakaryopoiesis and overproduction of platelets. Germ line mutations have been identified in the genes for thrombopoietin (THPO) and its receptor, MPL. A clustering of familial cases with the MPL-G1073A mutation that results in a serine to asparagine substitution (S505N) has been recently reported in Italy. Here we performed haplotype analysis in nine families (eight Italian and one Japanese) with hereditary thrombocythemia carrying the MPL-S505N mutation in the MPL gene.",

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author = "K Liu and Maurizio Martini and Bianca Rocca and Ci Amos and Luciana Teofili and F Giona and J Ding and H Komatsu and Larocca, {Luigi Maria} and Rc Skoda",

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T1 - Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia

AU - Liu, K

AU - Martini, Maurizio

AU - Rocca, Bianca

AU - Amos, Ci

AU - Teofili, Luciana

AU - Giona, F

AU - Ding, J

AU - Komatsu, H

AU - Larocca, Luigi Maria

AU - Skoda, Rc

PY - 2009

Y1 - 2009

N2 - Hereditary thrombocythemia is a rare disease characterized by increased megakaryopoiesis and overproduction of platelets. Germ line mutations have been identified in the genes for thrombopoietin (THPO) and its receptor, MPL. A clustering of familial cases with the MPL-G1073A mutation that results in a serine to asparagine substitution (S505N) has been recently reported in Italy. Here we performed haplotype analysis in nine families (eight Italian and one Japanese) with hereditary thrombocythemia carrying the MPL-S505N mutation in the MPL gene.

AB - Hereditary thrombocythemia is a rare disease characterized by increased megakaryopoiesis and overproduction of platelets. Germ line mutations have been identified in the genes for thrombopoietin (THPO) and its receptor, MPL. A clustering of familial cases with the MPL-G1073A mutation that results in a serine to asparagine substitution (S505N) has been recently reported in Italy. Here we performed haplotype analysis in nine families (eight Italian and one Japanese) with hereditary thrombocythemia carrying the MPL-S505N mutation in the MPL gene.

KW - Adolescent

KW - Adult

KW - Asian Continental Ancestry Group

KW - Child

KW - Child, Preschool

KW - European Continental Ancestry Group

KW - Evidence-Based Medicine

KW - Female

KW - Founder Effect

KW - Haplotypes

KW - Humans

KW - Infant

KW - Italy

KW - Male

KW - Microsatellite Repeats

KW - Middle Aged

KW - Mutation

KW - Pedigree

KW - Receptors, Thrombopoietin

KW - Thrombocytosis

KW - Thrombopoietin

KW - Young Adult

KW - Adolescent

KW - Adult

KW - Asian Continental Ancestry Group

KW - Child

KW - Child, Preschool

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KW - Haplotypes

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KW - Infant

KW - Italy

KW - Male

KW - Microsatellite Repeats

KW - Middle Aged

KW - Mutation

KW - Pedigree

KW - Receptors, Thrombopoietin

KW - Thrombocytosis

KW - Thrombopoietin

KW - Young Adult

UR - http://hdl.handle.net/10807/23914

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DO - 10.3324/haematol.2009.005918

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EP - 1374

JO - Haematologica

JF - Haematologica

ER -

Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia

Abstract

Keywords

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