Journal article
Deletion of MAP2K2/MEK2: A novel mechanism for a RASopathy?
MJM Nowaczyk, BA Thompson, S Zeesman, U Moog, PA Sanchez-Lara, PL Magoulas, RE Falk, JE Hoover-Fong, DAS Batista, SM Amudhavalli, SM White, GE Graham, KA Rauen
Clinical Genetics | Published : 2014
DOI: 10.1111/cge.12116
Abstract
RASopathies are a class of genetic syndromes caused by germline mutations in genes encoding Ras/mitogen-activated protein kinase (Ras/MAPK) pathway components. Cardio-facio-cutaneous (CFC) syndrome is a RASopathy characterized by distinctive craniofacial features, skin and hair abnormalities, and congenital heart defects caused by activating mutations of BRAF, MEK1, MEK2, and KRAS. We define the phenotype of seven patients with de novo deletions of chromosome 19p13.3 including MEK2; they present with a distinct phenotype but have overlapping features with CFC syndrome. Phenotypic features of all seven patients include tall forehead, thick nasal tip, underdeveloped cheekbones, long midface, s..
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Awarded by National Institute of Arthritis and Musculoskeletal and Skin Diseases
Funding Acknowledgements
The authors are indebted to all families who contributed to this study. P. A. S.-L. is supported by the Harold Amos Faculty Development Program through the Robert Wood Johnson Foundation, NIDCR Supplement 3R37DE012711-13S1 and the CHLA-USC Child Health Research Career Development Program (NIH K12-HD05954).