Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation.
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.
Kratz
Christian Peter
CP
Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany. kratz@kikli.ukl.uni-freiburg.de
Nathrath
Michaela
M
Freisinger
Peter
P
Dressel
Petra
P
Assmuss
Hans-Peter
HP
Klein
Cornelia
C
Yoshimi
Ayami
A
Burdach
Stefan
S
Niemeyer
Charlotte Marie
CM
D003937:Diagnosis, Differential; D017809:Fatal Outcome; D018095:Germ-Line Mutation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics