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- Title
Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation.
- Authors
Kratz, Christian Peter; Nathrath, Michaela; Freisinger, Peter; Dressel, Petra; Assmuss, Hans-Peter; Klein, Cornelia; Yoshimi, Ayami; Burdach, Stefan; Niemeyer, Charlotte Marie
- 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.
- Subjects
ERYTHROCYTE membranes; MYELOPROLIFERATIVE neoplasms; LEUKEMIA; ERYTHROCYTE disorders; GENES; NEWBORN infants; COMPARATIVE studies; DIFFERENTIAL diagnosis; DISEASE complications; RESEARCH methodology; MEDICAL cooperation; GENETIC mutation; RESEARCH; EVALUATION research; TREATMENT effectiveness; NOONAN syndrome; DIAGNOSIS
- Publication
European Journal of Pediatrics, 2006, Vol 165, Issue 3, p182
- ISSN
0340-6199
- Publication type
journal article
- DOI
10.1007/s00431-005-0031-x