The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome

Joyce, Sarah; Gordon, Kristiana; Brice, Glen; Østergaard, Pia; Nagaraja, Rani; Short, John; Moore, Sandra A.; Mortimer, Peter; Mansour, Sahar

doi:10.1038/ejhg.2015.175

Cited by 69 publications

(67 citation statements)

References 14 publications

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“…LV abnormalities such as lymphedema, chylous ascites, and chylothorax are common in these diseases (36). In support of this possibility, in recent imaging studies of Noonan syndrome and cardiofaciocutaneous syndrome patients, retrograde flow of lymph in collecting LVs was observed frequently (37).…”

Section: Discussionmentioning

confidence: 63%

RASA1 regulates the function of lymphatic vessel valves in mice

Lapinski¹,

Lubeck²,

Chen³

et al. 2017

Journal of Clinical Investigation

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Section: Discussionmentioning

confidence: 63%

RASA1 regulates the function of lymphatic vessel valves in mice

Lapinski¹,

Lubeck²,

Chen³

et al. 2017

Journal of Clinical Investigation

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“…Mutations in some of these genes are more frequently associated with the onset of lymphatic malformations. For example, mutations in KRAS (OMIM: 190070) were identified in a patient with hydrops fetalis, chylous reflux and intestinal lymphangiectasia, and in another patient with chylous reflux 45. Another paper reports a patient with chylothorax, lymphedema and cystic hygroma;46 another case with severe hydrops,47 and a patient with cystic hygroma 48.…”

Section: Resultsmentioning

confidence: 99%

Genetic tests in lymphatic vascular malformations and lymphedema

Michelini

Paolacci²,

Manara³

et al. 2018

J Med Genet

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Syndromes with lymphatic malformations show phenotypic variability within the same entity, clinical features that overlap between different conditions and allelic as well as heterogeneity. The aim of this review is to provide a comprehensive clinical genetic description of lymphatic malformations and the techniques used for their diagnosis, and to propose a flowchart for genetic testing. Literature and database searches were performed to find conditions characterised by lymphatic malformations or the predisposition to lymphedema after surgery, to identify the associated genes and to find the guidelines and genetic tests currently used for the molecular diagnosis of these disorders. This search allowed us to identify several syndromes with lymphatic malformations that are characterised by a great heterogeneity of phenotypes, alleles and, and a high frequency of sporadic cases, which may be associated with somatic mutations. For these disorders, we found many diagnostic tests, an absence of harmonic guidelines for molecular diagnosis and well-established clinical guidelines. Targeted sequencing is the preferred method for the molecular diagnosis of lymphatic malformations. These techniques are easy to implement and have a good diagnostic success rates. In addition, they are relatively inexpensive and permit parallel analysis of all known disease-associated genes. The targeted sequencing approach has improved the diagnostic process, giving patients access to better treatment and, potentially, to therapy personalised to their genetic profiles. These new techniques will also facilitate the prenatal and early postnatal diagnosis of congenital lymphatic conditions and the possibility of early intervention.

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“…8 Associations with genetic syndromes including congenital lymphatic malformation syndromes such as Gorham-Stout, Optiz G/BBB, Hennekam, and Milroy syndromes, and chromosome abnormalities such as Trisomy 21 or Turner syndrome have been reported. 8 Chylothorax of variable onset has also been reported in RASopathies 9 such as Noonan syndrome, although detailed descriptions of spontaneous early-onset chylothorax in genetically-confirmed cases of Noonan syndrome have not been reported. Collectively, genetic etiologies may account for up to ~15–30% of cases of early-onset chylothorax.…”

mentioning

confidence: 99%