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Rubinstein–Taybi syndrome in diverse populations
Author(s) -
TekendoNgongang Cedrik,
Owosela Babajide,
Fleischer Nicole,
Addissie Yonit A.,
Malonga Bryan,
Badoe Ebenezer,
Gupta Neerja,
Moresco Angélica,
Huckstadt Victoria,
Ashaat Engy A.,
Hussen Dalia Farouk,
Luk HoMing,
Lo Ivan F. M.,
HonYin Chung Brian,
Fung Jasmine L. F.,
MorettiFerreira Danilo,
Batista Letícia Cassimiro,
LotzEsquivel Stephanie,
SaborioRocafort Manuel,
BadillaPorras Ramses,
Pe Portmann Monica,
Jones Kelly L.,
AbdulRahman Omar A.,
Uwineza Annette,
Prijoles Eloise J.,
Ifeorah Ifeanyi Kanayo,
Llamos Paneque Arianne,
Siriseirmala D.,
Dowsett Leah,
Lee Sansan,
Cappuccio Gerarda,
Kitchin Carolyn Sian,
DiazKuan Alicia,
Thong MeowKeong,
Obregon María Gabriela,
Mutesa Leon,
Dissanayake Vajira H. W.,
El Ruby Mona O.,
BrunettiPierri Nicola,
Ekure Ekanem Nsikak,
Stevenson Roger E.,
Muenke Maximilian,
Kruszka Paul
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61888
Subject(s) - rubinstein–taybi syndrome , craniofacial , population , medicine , dermatology , psychiatry , environmental health
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.