title: Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation.
abstract: We report a neonate with hypertrophic cardiomyopathy and lethal myeloproliferative disorder with excessively proliferating immature erythroid precursors infiltrating non-hematopoietic organs. Mutational analysis uncovered a germline mutation in the Noonan syndrome/LEOPARD syndrome (NS/LS) gene PTPN11. In conclusion, this case report suggests that congenital myeloproliferative disorders in association with germline PTPN11 mutations may affect the erythroid lineage.
authors.affiliation: Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany. kratz@kikli.ukl.uni-freiburg.de
authors.forename: Christian Peter
authors.initials: CP
authors.lastname: Kratz
authors.forename: Michaela
authors.initials: M
authors.lastname: Nathrath
authors.forename: Peter
authors.initials: P
authors.lastname: Freisinger
authors.forename: Petra
authors.initials: P
authors.lastname: Dressel
authors.forename: Hans-Peter
authors.initials: HP
authors.lastname: Assmuss
authors.forename: Cornelia
authors.initials: C
authors.lastname: Klein
authors.forename: Ayami
authors.initials: A
authors.lastname: Yoshimi
authors.forename: Stefan
authors.initials: S
authors.lastname: Burdach
authors.forename: Charlotte Marie
authors.initials: CM
authors.lastname: Niemeyer
mesh_terms: D003937:Diagnosis, Differential; D017809:Fatal Outcome; D018095:Germ-Line Mutation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics