A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia

Rie Yoshida, Masafumi Miyata, Toshiro Nagai, Toshio Yamazaki, Tsutomu Ogata

Research output: Contribution to journalArticlepeer-review

25 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)63-66
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume128 A
Issue number1
Publication statusPublished - 01-07-2004

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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