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Article: Rubinstein–Taybi syndrome in diverse populations

TitleRubinstein–Taybi syndrome in diverse populations
Authors
KeywordsAfrica
Asia
facial analysis technology
Latin America
Middle East
Issue Date2020
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Citation
American Journal of Medical Genetics Part A, 2020, v. 182 n. 12, p. 2939-2950 How to Cite?
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.
Persistent Identifierhttp://hdl.handle.net/10722/287623
ISSN
2019 Impact Factor: 2.125
2015 SCImago Journal Rankings: 1.115

 

DC FieldValueLanguage
dc.contributor.authorTekendo-Ngongang, C-
dc.contributor.authorOwosela, B-
dc.contributor.authorFleischer, N-
dc.contributor.authorAddissie, YA-
dc.contributor.authorMalonga, B-
dc.contributor.authorBadoe, E-
dc.contributor.authorGupta, N-
dc.contributor.authorMoresco, A-
dc.contributor.authorHuckstadt, V-
dc.contributor.authorAshaat, EA-
dc.contributor.authorHussen, DF-
dc.contributor.authorLuk, HM-
dc.contributor.authorLo, IFM-
dc.contributor.authorChung, BHY-
dc.contributor.authorFung, JLF-
dc.contributor.authorMoretti-Ferreira, D-
dc.contributor.authorBatista, LC-
dc.contributor.authorLotz-Esquivel, S-
dc.contributor.authorSaborio-Rocafort, M-
dc.contributor.authorBadilla-Porras, R-
dc.contributor.authorPenon Portmann, M-
dc.contributor.authorJones, KL-
dc.contributor.authorAbdul-Rahman, OA-
dc.contributor.authorUwineza, A-
dc.contributor.authorPrijoles, EJ-
dc.contributor.authorIfeorah, IK-
dc.contributor.authorPaneque, AL-
dc.contributor.authorSirisena, ND-
dc.contributor.authorDowsett, L-
dc.contributor.authorLee, S-
dc.contributor.authorCappuccio, G-
dc.contributor.authorKitchin, CS-
dc.contributor.authorDiaz-Kuan, A-
dc.contributor.authorThong, MK-
dc.contributor.authorObregon, MG-
dc.contributor.authorMutesa, L-
dc.contributor.authorDissanayake, VHW-
dc.contributor.authorEl Ruby, MO-
dc.contributor.authorBrunetti-Pierri, N-
dc.contributor.authorEkure, EN-
dc.contributor.authorStevenson, RE-
dc.contributor.authorMuenke, M-
dc.contributor.authorKruszka, P-
dc.date.accessioned2020-10-05T12:00:48Z-
dc.date.available2020-10-05T12:00:48Z-
dc.date.issued2020-
dc.identifier.citationAmerican Journal of Medical Genetics Part A, 2020, v. 182 n. 12, p. 2939-2950-
dc.identifier.issn1552-4825-
dc.identifier.urihttp://hdl.handle.net/10722/287623-
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.-
dc.languageeng-
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html-
dc.relation.ispartofAmerican Journal of Medical Genetics Part A-
dc.rightsPreprint This is the pre-peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. Postprint This is the peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.-
dc.subjectAfrica-
dc.subjectAsia-
dc.subjectfacial analysis technology-
dc.subjectLatin America-
dc.subjectMiddle East-
dc.titleRubinstein–Taybi syndrome in diverse populations-
dc.typeArticle-
dc.identifier.emailLuk, HM: lukhm@hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.emailFung, JLF: jasflf@connect.hku.hk-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/ajmg.a.61888-
dc.identifier.pmid32985117-
dc.identifier.scopuseid_2-s2.0-85091492610-
dc.identifier.hkuros315655-
dc.identifier.volume182-
dc.identifier.issue12-
dc.identifier.spage2939-
dc.identifier.epage2950-
dc.publisher.placeUnited States-

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