title: A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia.
abstract: 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.
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Hae-Sun
authors.initials: HS
authors.lastname: Chung
authors.forename: Kyung Nam
authors.initials: KN
authors.lastname: Koh
authors.forename: Hee-Jung
authors.initials: HJ
authors.lastname: Kim
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Ki-O
authors.initials: KO
authors.lastname: Lee
authors.forename: Chan-Jeoung
authors.initials: CJ
authors.lastname: Park
authors.forename: Hyun-Sook
authors.initials: HS
authors.lastname: Chi
authors.forename: Sun-Hee
authors.initials: SH
authors.lastname: Kim
authors.forename: Jong-Jin
authors.initials: JJ
authors.lastname: Seo
authors.forename: Ho Joon
authors.initials: HJ
authors.lastname: Im
mesh_terms: D001483:Base Sequence; D018389:Codon, Nonsense; D000080984:Congenital Bone Marrow Failure Syndromes; D004252:DNA Mutational Analysis; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D013921:Thrombocytopenia / Q000235:genetics / Q000601:surgery
chemical_list: D018389:Codon, Nonsense; D053628:Receptors, Thrombopoietin; C082218:MPL protein, human