title: Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.
abstract: Noonan syndrome (NS) is one of the most common syndromes transmitted by a mendelian mode. In recent years, germline mutations that affect components of the RAS-MAPK (mitogen-activated protein kinase) pathway were shown to be involved in the pathogenesis of NS and four rare syndromes with clinical features overlapping with NS: Leopard syndrome, cardio-facio-cutaneous syndrome, Costello syndrome and neurofibromatosis type 1. Several hormones act through receptors that stimulate the RAS-MAPK pathway, and therefore, NS and related disorders represent a remarkable opportunity to study the implication of the RAS-MAPK pathway in different endocrine systems. Additionally, children with NS frequently are referred to the endocrinologist because of short stature, delayed puberty and/or undescended testes in males. In this paper, we review the diagnostic, clinical and molecular aspects of NS and NS-related disorders.
authors.affiliation: Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil. alexj@usp.br
authors.forename: Alexander A L
authors.initials: AA
authors.lastname: Jorge
authors.forename: Alexsandra C
authors.initials: AC
authors.lastname: Malaquias
authors.forename: Ivo J P
authors.initials: IJ
authors.lastname: Arnhold
authors.forename: Berenice B
authors.initials: BB
authors.lastname: Mendonca
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D011905:Genes, ras; D018095:Germ-Line Mutation; D019382:Human Growth Hormone / Q000502:physiology; D006801:Humans; D020935:MAP Kinase Signaling System / Q000235:genetics* / Q000502:physiology; D008297:Male; D009369:Neoplasms / Q000235:genetics; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics*; D018631:ras Proteins / Q000235:genetics / Q000502:physiology
chemical_list: D019382:Human Growth Hormone; D018631:ras Proteins