Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.
Am J Med Genet A
; 158A(10): 2407-11, 2012 Oct.
Article
em En
| MEDLINE
| ID: mdl-22887781
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Genes ras
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Mutação em Linhagem Germinativa
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Leucemia Mielomonocítica Juvenil
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Síndrome de Noonan
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
França