Neurofibromatosis-Noonan Syndrome: Molecular evidence of the concurrence of both disorders in a patient

Debora R. Bertola, Alexandre C. Pereira, Fábio Passetti, Paulo S.L. De Oliveira, Ludwine Messiaen, Bruce D. Gelb, Chong A. Kim, José Eduardo Krieger

Research output: Contribution to journalArticlepeer-review

69 Scopus citations

Abstract

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial anomalies, webbed neck, sternal deformity, heart defects, and, in males, cryptorchidism. PTPN11 encodes SHP2, an important component of several signal transduction pathways that acts as a positive regulator of RAS-mitogen activated protein kinase signaling. Neurofibromatosis type 1 (NF1) is another autosomal dominant disorder characterized by hamartomas in multiple organs. The NF1 gene encodes a GAP-related protein, which acts as a negative regulator of the Ras-mediated signal transduction pathway. Clinical overlap between both syndromes, neurofibromatosis-Noonan syndrome (NFNS) is well known. We studied a female patient with typical findings of NFNS and found two mutations: a novel PTPN11 transversion, 1909A → G, resulting in Gln510Arg, and an NF1 transversion, 2531A → G, resulting in Leu844Arg. She inherited the PTPN11 mutation from her father and had a de novo NF1 mutation. This is the first report of molecular concurrence of both disorders in the same patient.

Original languageEnglish
Pages (from-to)242-245
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume136 A
Issue number3
DOIs
StatePublished - 30 Jul 2005

Keywords

  • Cardiofaciocutaneous syndrome
  • LEOPARD syndrome
  • NF1
  • Noonan-like/multiple giant cell lesion syndrome
  • PTPN11

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