22q11.2 deletion syndrome in diverse populations

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dc.contributor.authorKruszka, P.
dc.contributor.authorAddissie, Y.A.
dc.contributor.authorMcGinn, D.E.
dc.contributor.authorPorras, A.R.
dc.contributor.authorBiggs, E.
dc.contributor.authorShare, M
dc.contributor.authorCrowley, T.B.
dc.contributor.authorChung, B.H.
dc.contributor.authorMok, G.T.
dc.contributor.authorMak, C.C.
dc.contributor.authorMuthukumarasamy, P.
dc.contributor.authorThong, M.K.
dc.contributor.authorSirisena, N.D.
dc.contributor.authorDissanayake, V.H.
dc.contributor.authorPaththinige, C.S.
dc.contributor.authorPrabodha, L.B.
dc.contributor.authorMishra, R.
dc.contributor.authorShotelersuk, V.
dc.contributor.authorEkure, E.N.
dc.contributor.authorSokunbi, O.J.
dc.contributor.authorKalu, N.
dc.contributor.authorFerreira, C.R.
dc.contributor.authorDuncan, J.M.
dc.contributor.authorPatil, S.J.
dc.contributor.authorJones, K.L.
dc.contributor.authorKaplan, J.D.
dc.contributor.authorAbdul-Rahman, O.A.
dc.contributor.authorUwineza, A.
dc.contributor.authorMutesa, L.
dc.contributor.authorMoresco, A.
dc.contributor.authorObregon, M.G.
dc.contributor.authorRichieri-Costa, A.
dc.contributor.authorGil-da-Silva-Lopes, V.L.
dc.contributor.authorAdeyemo, A.A.
dc.contributor.authorSummar, M.
dc.contributor.authorZackai, E.H.
dc.contributor.authorMcDonald-McGinn, D.M.
dc.contributor.authorLinguraru, M.G.
dc.contributor.authorMuenke, M.
dc.date.accessioned2019-11-12T11:26:20Z
dc.date.available2019-11-12T11:26:20Z
dc.date.issued2017-04
dc.descriptionStaff publicationsen_US
dc.description.abstract22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations. This syndrome has a variable phenotype and affects multiple systems, making early recognition imperative. In this study, individuals from diverse populations with 22q11.2 DS were evaluated clinically and by facial analysis technology. Clinical information from 106 individuals and images from 101 were collected from individuals with 22q11.2 DS from 11 countries; average age was 11.7 and 47% were male. Individuals were grouped into categories of African descent (African), Asian, and Latin American. We found that the phenotype of 22q11.2 DS varied across population groups. Only two findings, congenital heart disease and learning problems, were found in greater than 50% of participants. When comparing the clinical features of 22q11.2 DS in each population, the proportion of individuals within each clinical category was statistically different except for learning problems and ear anomalies (P<0.05). However, when Africans were removed from analysis, six additional clinical features were found to be independent of ethnicity (P≥0.05). Using facial analysis technology, we compared 156 Caucasians, Africans, Asians, and Latin American individuals with 22q11.2 DS with 156 age and gender matched controls and found that sensitivity and specificity were greater than 96% for all populations. In summary, we present the varied findings from global populations with 22q11.2 DS and demonstrate how facial analysis technology can assist clinicians in making accurate 22q11.2 DS diagnoses. This work will assist in earlier detection and in increasing recognition of 22q11.2 DS throughout the worlden_US
dc.description.sponsorshipNational Institute of Heath grants R01 MH087636-01A1; PO1-HD070454; and 1U01MH101720-02. Partial funding of this project was from a philanthropic gift from the Government of Abu Dhabi to the Children’s National Health System.en_US
dc.identifier.citationKruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, Crowley TB, Chung BH, Mok GT, Mak CC, Muthukumarasamy P, Thong MK, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Mishra R, Shotelersuk V, Ekure EN, Sokunbi OJ, Kalu N, Ferreira CR, Duncan JM, Patil SJ, Jones KL, Kaplan JD, Abdul-Rahman OA, Uwineza A, Mutesa L, Moresco A, Obregon MG, Richieri-Costa A, Gil-da-Silva-Lopes VL, Adeyemo AA, Summar M, Zackai EH, McDonald-McGinn DM, Linguraru MG, Muenke M. 22q11.2 deletion syndrome in diverse populations. Am J Med Genet A. 2017 Apr;173(4):879-888.en_US
dc.identifier.otherdoi: 10.1002/ajmg.a.38199
dc.identifier.urihttps://ir.unilag.edu.ng/handle/123456789/6820
dc.language.isoenen_US
dc.publisherWiley Periodicals, Inc.en_US
dc.subject22q11.2 Deletion Syndromeen_US
dc.subjectDiGeorge Syndromeen_US
dc.subjectVelocardiofacial Syndromeen_US
dc.subjectdiverse populationsen_US
dc.subjectfacial analysis technologyen_US
dc.subjectResearch Subject Categories::MEDICINEen_US
dc.title22q11.2 deletion syndrome in diverse populationsen_US
dc.typeArticleen_US
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