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A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia
Author(s) -
Chung HaeSun,
Koh Kyung Nam,
Kim HeeJung,
Kim HeeJin,
Lee KiO,
Park ChanJeoung,
Chi HyunSook,
Kim SunHee,
Seo JongJin,
Im Ho Joon
Publication year - 2011
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22842
Subject(s) - thrombopoietin , nonsense mutation , medicine , nonsense , mutation , pancytopenia , missense mutation , bone marrow failure , genetics , gene , cancer research , bone marrow , immunology , biology , haematopoiesis , stem cell
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive disorder characterized by thrombocytopenia from failure of megakaryopoiesis. CAMT is one of the bone marrow failure syndromes, and the disease progression may involve other lineages leading to pancytopenia. The genetic background of CAMT is mutations in the MPL gene encoding the thrombopoietin receptor. Here, we describe a Korean male with CAMT. Molecular genetic analyses by direct sequencing revealed that he was compound heterozygous for two nonsense mutations in MPL , Tyr63X (c.189C>A), and Arg357X (c.1069C>T), the latter being a novel mutation. Pediatr Blood Cancer 2011;56:??–??. © 2010 Wiley‐Liss, Inc.