Noonan syndrome in diverse populations

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dc.contributor.authorKruszka, P.
dc.contributor.authorPorras, A.R.
dc.contributor.authorAddissie, Y.A.
dc.contributor.authorMoresco, A.
dc.contributor.authorMedrano, S.
dc.contributor.authorMok, G.T.K.
dc.contributor.authorLeung, G.K.C.
dc.contributor.authorTekendo-Ngongang, C.
dc.contributor.authorUwineza, A.
dc.contributor.authorThong, M.K.
dc.contributor.authorMuthukumarasamy, P.
dc.contributor.authorHoney, E.
dc.contributor.authorEkure, E.N.
dc.contributor.authorSokunbi, O.J.
dc.contributor.authorKalu, N.
dc.contributor.authorJones, K.L.
dc.contributor.authorKaplan, J.D.
dc.contributor.authorAbdul-Rahman, O.A.
dc.contributor.authorVincent, L.M.
dc.contributor.authorLove, A.
dc.contributor.authorBelhassan, K.
dc.contributor.authorOuldim, K.
dc.contributor.authorEl Bouchikhi, I.
dc.contributor.authorShukla, A.
dc.contributor.authorGirisha, K.M.
dc.contributor.authorPatil, S.J.
dc.contributor.authorSirisena, N.D.
dc.contributor.authorDissanayake, V.H.W.
dc.contributor.authorPaththinige, C.S.
dc.contributor.authorMishra, R.
dc.contributor.authorKlein-Zighelboim, E.
dc.contributor.authorGallardo Jugo, B.E.
dc.contributor.authorChávez Pastor, M.
dc.contributor.authorAbarca-Barriga, H.H.
dc.contributor.authorSkinner, S.A.
dc.contributor.authorPrijoles, E.J.
dc.contributor.authorBadoe, E.
dc.contributor.authorGill, A.D.
dc.contributor.authorShotelersuk, V.
dc.contributor.authorSmpokou, P.
dc.contributor.authorKisling, M.S.
dc.contributor.authorFerreira, C.R.
dc.contributor.authorMutesa, L.
dc.contributor.authorMegarbane, A.
dc.contributor.authorKline, A.D.
dc.contributor.authorKimball, A.
dc.contributor.authorOkello, E.
dc.contributor.authorLwabi, P.
dc.contributor.authorAliku, T.
dc.contributor.authorTenywa, E.
dc.contributor.authorBoonchooduang, N.
dc.contributor.authorTanpaiboon, P.
dc.contributor.authorRichieri-Costa, A.
dc.contributor.authorWonkam, A.
dc.contributor.authorChung, B.H.Y.
dc.contributor.authorStevenson, R.E.
dc.contributor.authorSummar, M.
dc.contributor.authorMandal, K.
dc.contributor.authorPhadke, S.R.
dc.contributor.authorObregon, M.G.
dc.contributor.authorLinguraru, M.G.
dc.contributor.authorMuenke, M.
dc.date.accessioned2019-11-12T10:58:10Z
dc.date.available2019-11-12T10:58:10Z
dc.date.issued2017-07-27
dc.descriptionStaff publicationsen_US
dc.description.abstractNoonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized in populations of European descent with less attention given to other groups. In this study, individuals from diverse populations with NS were evaluated clinically and by facial analysis technology. Clinical data and images from 125 individuals with NS were obtained from 20 countries with an average age of 8 years and female composition of 46%. Individuals were grouped into categories of African descent (African), Asian, Latin American, and additional/other. Across these different population groups, NS was phenotypically similar with only 2 of 21 clinical elements showing a statistically significant difference. The most common clinical characteristics found in all population groups included widely spaced eyes and low-set ears in 80% or greater of participants, short stature in more than 70%, and pulmonary stenosis in roughly half of study individuals. Using facial analysis technology, we compared 161 Caucasian, African, Asian, and Latin American individuals with NS with 161 gender and age matched controls and found that sensitivity was equal to or greater than 94% for all groups, and specificity was equal to or greater than 90%. In summary, we present consistent clinical findings from global populations with NS and additionally demonstrate how facial analysis technology can support clinicians in making accurate NS diagnoses. This work will assist in earlier detection and in increasing recognition of NS throughout the world.en_US
dc.description.sponsorshipPartial funding of this project was from a philanthropic gift from the Government of Abu Dhabi to the Children’s National Health System, Washington DC.en_US
dc.identifier.citationKruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Gallardo Jugo BE, Chávez Pastor M, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M. Noonan syndrome in diverse populations. Am J Med Genet A. 2017 Sep;173(9):2323-2334.en_US
dc.identifier.otherdoi: 10.1002/ajmg.a.38362.
dc.identifier.urihttps://ir.unilag.edu.ng/handle/123456789/6818
dc.language.isoenen_US
dc.publisherWiley Periodicals, Inc.en_US
dc.subjectAfricaen_US
dc.subjectAsiaen_US
dc.subjectLatin Americaen_US
dc.subjectMiddle Easten_US
dc.subjectNoonan syndromeen_US
dc.subjectdiverse populationsen_US
dc.subjectfacial analysis technologyen_US
dc.subjectResearch Subject Categories::MEDICINEen_US
dc.titleNoonan syndrome in diverse populationsen_US
dc.typeArticleen_US
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