Rubinstein–Taybi syndrome in diverse populations

Cedrik Tekendo-Ngongang, Babajide Owosela, Nicole Fleischer, Yonit A. Addissie, Bryan Malonga, Ebenezer Badoe, Neerja Gupta, Angélica Moresco, Victoria Huckstadt, Engy A. Ashaat, Dalia Farouk Hussen, Ho Ming Luk, Ivan F.M. Lo, Brian Hon-Yin Chung, Jasmine L.F. Fung, Danilo Moretti-Ferreira, Letícia Cassimiro Batista, Stephanie Lotz-Esquivel, Manuel Saborio-Rocafort, Ramses Badilla-PorrasMonica Penon Portmann, Kelly L. Jones, Omar A. Abdul-Rahman, Annette Uwineza, Eloise J. Prijoles, Ifeanyi Kanayo Ifeorah, Arianne Llamos Paneque, Nirmala D. Sirisena, Leah Dowsett, Sansan Lee, Gerarda Cappuccio, Carolyn Sian Kitchin, Alicia Diaz-Kuan, Meow Keong Thong, María Gabriela Obregon, Leon Mutesa, Vajira H.W. Dissanayake, Mona O. El Ruby, Nicola Brunetti-Pierri, Ekanem Nsikak Ekure, Roger E. Stevenson, Maximilian Muenke, Paul Kruszka

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


Rubinstein–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.

Original languageEnglish (US)
Pages (from-to)2939-2950
Number of pages12
JournalAmerican Journal of Medical Genetics, Part A
Issue number12
StatePublished - Dec 2020
Externally publishedYes


  • Africa
  • Asia
  • Latin America
  • Middle East
  • Rubinstein–Taybi syndrome
  • facial analysis technology

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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