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Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia
Author(s) -
Kraoua Lilia,
Journel Hubert,
Bonnet Philippe,
Amiel Jeanne,
Pouvreau Nathalie,
Baumann Clarisse,
Verloes Alain,
Cavé Hélène
Publication year - 2012
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.35513
Subject(s) - neuroblastoma ras viral oncogene homolog , juvenile myelomonocytic leukemia , ptpn11 , kras , noonan syndrome , germline , germline mutation , medicine , mutation , cancer research , oncology , genetics , cancer , biology , gene , stem cell , haematopoiesis , colorectal cancer
Recently, germline mutations of NRAS have been shown to be associated with Noonan syndrome (NS), a relatively common developmental disorder characterized by short stature, congenital heart disease, and distinctive facial features. We report on the mutational analysis of NRAS in a cohort of 125 French patients with NS and no known mutation for PTPN11 , KRAS , SOS1 , MEK1 , MEK2 , RAF1 , BRAF , and SHOC2 . The c.179G>A (p.G60E) mutation was identified in two patients with typical NS, confirming that NRAS germline mutations are a rare cause of this syndrome. We also screened our cohort of 95 patients with juvenile myelomonocytic leukemia (JMML). Among 17 patients with NRAS ‐mutated JMML, none had clinical features suggestive of NS. None of the 11 JMML patients for which germline DNA was available had a constitutional NRAS mutation. © 2012 Wiley Periodicals, Inc.