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A 3‐bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia
Author(s) -
Yoshida Rie,
Miyata Masafumi,
Nagai Toshiro,
Yamazaki Toshio,
Ogata Tsutomu
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30029
Subject(s) - ptpn11 , noonan syndrome , juvenile myelomonocytic leukemia , hydrops fetalis , mutation , genetics , biology , cancer research , medicine , gene , fetus , pregnancy , stem cell , haematopoiesis , kras
A de novo 3‐bp deletion (179–181delGTG) was identified at exon 3 of the PTPN11 gene in a female infant with severe Noonan phenotype including hydrops fetalis and juvenile myelomonocytic leukemia. Since the 3‐bp deletion is predicted to result in loss of the 60th glycine in the N‐SH2 domain that is directly involved in the intramolecular interaction between the N‐SH2 and the PTP domains of the PTPN11 protein, this mutation would disrupt the N‐SH2/PTP binding in the absence of a phosphopeptide, leading to an excessive phosphatase activity. The results expand the spectrum of PTPN11 mutations in Noonan syndrome (NS), and suggest that a PTPN11 mutation leads to a wide range of clinical features of Noonan syndrome. © 2004 Wiley‐Liss, Inc.