Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.

Autor: Milosavljević D; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.; Department of Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands., Overwater E; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands., Tamminga S; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., de Boer K; Department of Cardiology, VU University Medical Center, Amsterdam, The Netherlands., Elting MW; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., van Hoorn ME; Department of Obstetrics and Gynecology, VU University Medical Center, Amsterdam, The Netherlands., Rinne T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Houweling AC; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Jul; Vol. 170 (7), pp. 1874-80. Date of Electronic Publication: 2016 Apr 25.
DOI: 10.1002/ajmg.a.37657
Abstrakt: Mutations in RIT1, involved in the RAS-MAPK pathway, have recently been identified as a cause for Noonan syndrome. We present two patients with Noonan syndrome caused by a RIT1 mutation with novel phenotypic manifestations, severe bilateral lower limb lymphedema starting during puberty, and fetal hydrops resulting in intrauterine fetal death, respectively. Including our patients, a total of 52 patients have been reported with Noonan syndrome caused by a RIT1 mutation. Our report contributes to the delineation of the phenotype associated with RIT1 mutations and underlines that lymphatic involvement is part of this spectrum. In addition, we provide an overview of the currently described Noonan syndrome patients with RIT1 mutations in literature. © 2016 Wiley Periodicals, Inc.
(© 2016 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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