Congenital amegakaryocytic thrombocytopenia--report of a new c-mpl gene missense mutation.
A 44-month old girl with congenital amegakaryocytic thrombocytopenia, already with pancytopenia, underwent an unrelated allogeneic cord blood transplantation with recovery of normal blood cell counts. The patient was a compound heterozygote for two c-mpl missense mutations inherited from both parents, one of them, a G578A exon 4 mutation leading to a cysteine to tyrosine replacement of codon 193, previously unreported.
Passos-Coelho
J L
JL
Bone Marrow Transplantation Unit, Instituto Português de Oncologia de Francisco Gentil, Lisbon, Portugal. jcoelho@ipolisboa.min-saude.pt
Sebastião
M
M
Gameiro
P
P
Reichert
A
A
Vieira
L
L
Ferreira
I
I
Miranda
N
N
Guimarães
A
A
Leal-da-Costa
F
F
Abecasis
M M
MM
D002675:Child, Preschool; D005260:Female; D018392:Genomic Imprinting; D006579:Heterozygote; D006801:Humans; D008533:Megakaryocytes / Q000473:pathology; D020125:Mutation, Missense; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D033581:Stem Cell Transplantation; D013921:Thrombocytopenia / Q000151:congenital* / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D016896:Treatment Outcome
D053628:Receptors, Thrombopoietin; C082218:MPL protein, human