Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.

ABSTRACT: Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is genetically heterogeneous, being caused by germline mutations affecting various genes implicated in the RAS signaling network. This network transduces extracellular signals into intracellular biochemical and transcriptional responses controlling cell proliferation, differentiation, metabolism, and senescence. To explore the transcriptional consequences of NS-causing mutations, we performed global mRNA expression profiling on peripheral blood mononuclear cells obtained from 23 NS patients carrying heterozygous mutations in PTPN11 or SOS1. Gene expression profiling was also resolved in five subjects with Noonan-like syndrome with loose anagen hair (NS/LAH), a condition clinically re

SUBMITTER: Ferrero GB 

PROVIDER: S-EPMC3332054 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature