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Germline RRAS2 mutations are not associated with Noonan syndrome
  1. John J Ceremsak1,
  2. Ariel Yu1,
  3. Emilio Esquivel1,
  4. Christina Lissewski2,
  5. Martin Zenker2,
  6. Mignon L Loh1,3,
  7. Elliot Stieglitz1
  1. 1Department of Pediatrics, University of California, San Francisco, Benioff Children's Hospital, San Francisco, California, USA
  2. 2University Hospital Magdeburg, Institute of Human Genetics, Magdeburg, Germany
  3. 3Helen Diller Comprehensive Cancer Center, University of California, San Francisco, California, USA
  1. Correspondence to Dr Elliot Stieglitz, Department of Pediatrics, University of California San Francisco, Benioff Children's Hospital, San Francisco, CA 94158, USA; elliot.stieglitz{at}ucsf.edu

https://doi.org/10.1136/jmedgenet-2016-103889

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    The RASopathies constitute a diverse group of congenital disorders characterised by short stature, cardiac anomalies, distinctive facial features, predisposition to developing juvenile myelomonocytic leukaemia (JMML) and germline mutations in the Ras-mitogen activated protein kinase (MAPK) pathway.1 We recently described the genomic landscape of JMML, which can arise in the context of germline or somatic lesions in the Ras-MAPK pathway and identified somatic RRAS2 mutations as a novel lesion in JMML.2 We thus hypothesised that germline RRAS2 mutations could be an additional cause of Noonan syndrome (NS) and therefore screened 116 patients with NS who had no other identified lesions. No recurrent mutations were found in RRAS2.

    Autosomal dominant germline mutations in a variety of Ras-MAPK pathway genes, including PTPN11, SOS1, KRAS, HRAS, MAP2K1, MAP2K2, NRAS, RAF1, CBL, NF1, SPRED1, BRAF, SHOC2, …

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    Footnotes

    • Contributors Design of the study: MZ, MLL, and ES. Sample procurement and sequencing: JJC, AY, EE, and CL. Data analysis and interpretation: JJC and ES. Drafting of the manuscript: MLL, ES. Critical review and approval of the manuscript: all authors.

    • Funding German Research Foundation DFG ZE 524/10-1 (CL, MZ); Leukemia and Lymphoma Society 6059-09 (MLL); St. Baldrick's Foundation (ES).

    • Competing interests None declared.

    • Ethics approval Ethics Committee of the University Hospital of Magdeburg, Germany.

    • Provenance and peer review Not commissioned; internally peer reviewed.

    • Data sharing statement Primer information and chromatogram tracings are available upon request.