Rubinstein-Taybi syndrome in diverse populations.

Autor: Tekendo-Ngongang C; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Owosela B; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Fleischer N; FDNA Inc., Boston, Massachusetts, USA., Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Malonga B; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Badoe E; Department of Child Health, School of Medicine and Dentistry, College of Health Sciences, Accra, Ghana., Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Moresco A; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Huckstadt V; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Ashaat EA; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Hussen DF; Cytogenetic Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Luk HM; Department of Health, Clinical Genetic Service, Hong Kong Special Administrative Region, Hong Kong, China., Lo IFM; Department of Health, Clinical Genetic Service, Hong Kong Special Administrative Region, Hong Kong, China., Hon-Yin Chung B; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China., Fung JLF; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China., Moretti-Ferreira D; Department of Genetics, Institute of Biosciences, Sao Paulo State University-UNESP, Botucatu, São Paulo, Brazil., Batista LC; Department of Genetics, Institute of Biosciences, Sao Paulo State University-UNESP, Botucatu, São Paulo, Brazil., Lotz-Esquivel S; Rare and Orphan Disease Multidisciplinary Clinic, Hospital San Juan de Dios (CCSS), San José, Costa Rica., Saborio-Rocafort M; Medical Genetics and Metabolism Department, National Children's Hospital 'Dr. Carlos Sáenz Herrera' (CCSS), San José, Costa Rica., Badilla-Porras R; Medical Genetics and Metabolism Department, National Children's Hospital 'Dr. Carlos Sáenz Herrera' (CCSS), San José, Costa Rica., Penon Portmann M; Medical Genetics and Metabolism Department, National Children's Hospital 'Dr. Carlos Sáenz Herrera' (CCSS), San José, Costa Rica.; Division of Medical Genetics, Department of Pediatrics & Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA., Jones KL; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Abdul-Rahman OA; Munroe-Meyer institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA., Uwineza A; Centre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda., Prijoles EJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Ifeorah IK; Nigerian Air Force Hospital, Nigerian Air Force, Abuja, Nigeria., Llamos Paneque A; Medical Genetics Service, Specialty Hospital of the Armed Forces No. 1, International University of Ecuador, Sciences of Life Faculty, School of Dentistry, Quito, Ecuador., Sirisena ND; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Dowsett L; Kapi'olani Medical Center and University of Hawai'i, Honolulu, Hawaii, USA., Lee S; Kapi'olani Medical Center and University of Hawai'i, Honolulu, Hawaii, USA., Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Kitchin CS; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Diaz-Kuan A; Instituto de Medicina Genética, Santiago de Surco, Lima, Peru., Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Mutesa L; Centre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda., Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., El Ruby MO; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Brunetti-Pierri N; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Ekure EN; Department of Paediatrics, College of Medicine, University of Lagos, Lagos, Nigeria., Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina, USA., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA., Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Dec; Vol. 182 (12), pp. 2939-2950. Date of Electronic Publication: 2020 Sep 27.
DOI: 10.1002/ajmg.a.61888
Abstrakt: 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.
(© 2020 Wiley Periodicals LLC.)
Databáze: MEDLINE
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