Noonan Syndrome and Related Disorders: A Review of Clinical Features and Mutations in Genes of the RAS/MAPK Pathway

Author(s)

Jorge, Alexander A. L. ^[1] ; Malaquias, Alexsandra C. ^[1] ; Arnhold, Ivo J. P. ^[1] ; Mendonca, Berenice B. ^[1]

Affiliation

^[1] Univ Sao Paulo, Fac Med, Disciplina Endocrinol, Lab Hormonios & Genet Mol LIM 42, Unidade Endocrin, Sao Paulo - Brazil

• Document type: Review article
• Source: HORMONE RESEARCH; v. 71, n. 4, p. 185-193, 2009.
• Web of Science Citations: 59

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. Copyright (C) 2009 S. Karger AG, Basel (AU)

• FAPESP's process: 05/04726-0 - Molecular characterization of congenital endocrine diseases that affect growth and development
• Grantee: Ana Claudia Latronico Xavier
• Support Opportunities: Research Projects - Thematic Grants