Rubinstein-Taybi syndrome in diverse populations.

dc.contributor.authorTekendo-Ngongang, C.
dc.contributor.authorOwosela, B.
dc.contributor.authorFleischer, N.
dc.contributor.authorAddissie, Y.A.
dc.contributor.authorMalonga, B.
dc.contributor.authorBadoe, E.
dc.contributor.authorGupta, N.
dc.contributor.authorMoresco, A.
dc.contributor.authorHuchstadt, V.
dc.contributor.authorAshaat, E.A.
dc.contributor.authorHussen, D.F.
dc.contributor.authorLuk, H.M.
dc.contributor.authorLo, I.F.M.
dc.contributor.authorHon-Yin Chung, B.
dc.contributor.authorFung, J.L.F.
dc.contributor.authorMoretti-Ferreira, D.
dc.contributor.authorBatista, L.C.
dc.contributor.authorLotz-Esquivel, S.
dc.contributor.authorSaborio-Rocafort, M.
dc.contributor.authorBadilla-Porras, R.
dc.contributor.authorPenon Portmann, M.
dc.contributor.authorJones, K.L.
dc.contributor.authorAbdul-Rahman, O.A.
dc.contributor.authorUwineza, A.
dc.contributor.authorPrijoles, E.J.
dc.contributor.authorIfeorah, I.K.
dc.contributor.authorLlamos Paneque, A.
dc.contributor.authorSirisena, N.D.
dc.contributor.authorDowsett, L.
dc.contributor.authorLee, S.
dc.contributor.authorCappuccio, G.
dc.contributor.authorKitchin, C.S.
dc.contributor.authorDiaz-Kuan, A.
dc.contributor.authorThong, M.K.
dc.contributor.authorObregon, M.G.
dc.contributor.authorMutesa, L.
dc.contributor.authorDissanayake, V.H.W.
dc.contributor.authorEl Ruby, M.O.
dc.contributor.authorBrunetti-Pierri, N.
dc.contributor.authorEkure, E.N.
dc.contributor.authorStevenson, R.E.
dc.contributor.authorMuenke, M.
dc.contributor.authorKruszka, P.
dc.description.abstractRubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations. In this study, individuals from diverse populations with RSTS were assessed by clinical examination and facial analysis technology. Clinical data of 38 individuals from 14 different countries were analyzed. The median age was 7 years (age range: 7 months to 47 years), and 63% were females. The most common phenotypic features in all population groups included broad thumbs and/or halluces in 97%, convex nasal ridge in 94%, and arched eyebrows in 92%. Face images of 87 individuals with RSTS (age range: 2 months to 47 years) were collected for evaluation using facial analysis technology. We compared images from 82 individuals with RSTS against 82 age- and sex-matched controls and obtained an area under the receiver operating characteristic curve (AUC) of 0.99 (p < .001), demonstrating excellent discrimination efficacy. The discrimination was, however, poor in the African group (AUC: 0.79; p = .145). Individuals with EP300 variants were more effectively discriminated (AUC: 0.95) compared with those with CREBBP variants (AUC: 0.93). This study shows that clinical examination combined with facial analysis technology may enable earlier and improved diagnosis of RSTS in diverse populations.en_US
dc.description.sponsorshipNational Human Genome Research Institute, Grant/Award Number: Division of Intramural Researchen_US
dc.identifier.citationTekendo-Ngongang C, Owosela B, Fleischer N, Addissie YA, Malonga B, Badoe E, Gupta N, Moresco A, Huckstadt V, Ashaat EA, Hussen DF, Luk HM, Lo IFM, Hon-Yin Chung B, Fung JLF, Moretti-Ferreira D, Batista LC, Lotz-Esquivel S, Saborio-Rocafort M, Badilla-Porras R, Penon Portmann M, Jones KL, Abdul-Rahman OA, Uwineza A, Prijoles EJ, Ifeorah IK, Llamos Paneque A, Sirisena ND, Dowsett L, Lee S, Cappuccio G, Kitchin CS, Diaz-Kuan A, Thong MK, Obregon MG, Mutesa L, Dissanayake VHW, El Ruby MO, Brunetti-Pierri N, Ekure EN, Stevenson RE, Muenke M, Kruszka P. Rubinstein-Taybi syndrome in diverse populations. Am J Med Genet A. 2020 Dec;182(12):2939-2950. doi: 10.1002/ajmg.a.61888. Epub 2020 Sep 27. PMID: 32985117.en_US
dc.identifier.otherdoi: 10.1002/ajmg.a.61888. Epub 2020 Sep 27. PMID: 32985117.
dc.publisherWiley Periodicals, Inc.en_US
dc.subjectLatin Americaen_US
dc.subjectMiddle Easten_US
dc.subjectRubinstein-Taybi syndromeen_US
dc.subjectFacial analysis technologyen_US
dc.titleRubinstein-Taybi syndrome in diverse populations.en_US
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