Literature DB >> 16369799

Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation.

Christian Peter Kratz1, Michaela Nathrath, Peter Freisinger, Petra Dressel, Hans-Peter Assmuss, Cornelia Klein, Ayami Yoshimi, Stefan Burdach, Charlotte Marie Niemeyer.   

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.

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Year:  2005        PMID： 16369799     DOI： 10.1007/s00431-005-0031-x

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  30 in total

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Review 2.  Juvenile myelomonocytic leukemia and Noonan syndrome.

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  3 in total

1.  Co-occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death.

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Journal:  Clin Case Rep       Date:  2018-05-08

2.  A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

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  3 in total

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