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

研究成果: Article査読

26 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)63-66
ページ数4
ジャーナルAmerican Journal of Medical Genetics
128 A
1
出版ステータスPublished - 01-07-2004

All Science Journal Classification (ASJC) codes

  • 遺伝学
  • 遺伝学(臨床)

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