LymphedemaV1, Main, Exploration, bibRecord, 000968

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

Identifieur interne : 000968 ( Main/Exploration ); précédent : 000967; suivant : 000969

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

Auteurs : Doris Milosavljevi [Pays-Bas] ; Eline Overwater [Pays-Bas] ; Saskia Tamminga [Pays-Bas] ; Karin De Boer [Pays-Bas] ; Mariet W. Elting [Pays-Bas] ; Marion E. Van Hoorn [Pays-Bas] ; Tuula Rinne [Pays-Bas] ; Arjan C. Houweling [Pays-Bas]

Source :

American journal of medical genetics. Part A [ 1552-4833 ] ; 2016.

RBID : pubmed:27109146

Abstract

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.

DOI: 10.1002/ajmg.a.37657
PubMed: 27109146

Affiliations:

Le document en format XML

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<front><div type="abstract" xml:lang="en">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.</div>
</front>
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Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.

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

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Abstract

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