Williams-Beuren syndrome in diverse populations.

Autor: Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Porras AR; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, District of Columbia., de Souza DH; Department of Genetics, Institute of Biosciences, Sao Paulo State University - UNESP, São Paulo, Brazil., Moresco A; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Huckstadt V; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Gill AD; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Boyle AP; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, District of Columbia., Hu T; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Mok GTK; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hongkong, China., Tekendo-Ngongang C; Division of Human Genetics, University of Cape Town, Cape Town, South Africa., Fieggen K; Division of Human Genetics, University of Cape Town, Cape Town, South Africa., Prijoles EJ; Greenwood Genetic Center, Greenwood, South Carolina., Tanpaiboon P; Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia., Honey E; Department of Genetics, University of Pretoria, Pretoria, South Africa., Luk HM; Clinical Genetic Service, Department of Health, Hong Kong Special Administrative Region, Hongkong, China., Lo IFM; Clinical Genetic Service, Department of Health, Hong Kong Special Administrative Region, Hongkong, China., Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Muthukumarasamy P; Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Jones KL; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia., Belhassan K; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Medical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco., Ouldim K; Medical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco., El Bouchikhi I; Medical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco.; Laboratory of Microbial Biotechnology, Faculty of Sciences and Techniques, University of Sidi Mohammed Ben Abdellah, Fez, Morocco., Bouguenouch L; Medical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India., Sirisena ND; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Paththinige CS; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Mishra R; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Kisling MS; Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia., Ferreira CR; Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia., de Herreros MB; National Secretariat for the Rights of People with Disabilities (SENADIS), Fernando de la Mora, Paraguay., Lee NC; Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan., Jamuar SS; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore., Lai A; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore., Tan ES; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore., Ying Lim J; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore., Wen-Min CB; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore., Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Lotz-Esquivel S; Research Department, Hospital San Juan de Dios (CCSS), San José, Costa Rica., Badilla-Porras R; Medical Genetics and Metabolism Department, Hospital Nacional de Niños (CCSS), San José, Costa Rica., Hussen DF; Department of Human Cytogenetics, The National Research Centre, Cairo, Egypt., El Ruby MO; Clinical Genetics Department, National Research Centre, Cairo, Egypt., Ashaat EA; Clinical Genetics Department, National Research Centre, Cairo, Egypt., Patil SJ; Mazumdar Shaw Medical Center, Narayana Health City, Bangalore, India., Dowsett L; Kapi'olani Medical Center for Women and Children, Honolulu, Hawaii., Eaton A; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta., Shotelersuk V; Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand., Badoe Ë; School of Medicine and Dentistry, College of Health Sciences, University of Ghana, Accra, Ghana., Wonkam A; Division of Human Genetics, University of Cape Town, Cape Town, South Africa., Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hongkong, China., Trubnykova M; Instituto Nacional de Salud del Niño, Lima, Peru., La Serna J; Instituto Nacional de Salud del Niño, Lima, Peru., Gallardo Jugo BE; Instituto Nacional de Salud del Niño, Lima, Peru., Chávez Pastor M; Instituto Nacional de Salud del Niño, Lima, Peru., Abarca Barriga HH; Instituto Nacional de Salud del Niño, Lima, Peru., Megarbane A; Institut Jérôme Lejeune, Paris, France., Kozel BA; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri., van Haelst MM; Department of Genetics, University Medical Centre, Utrecht, Utrecht, The Netherlands., Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina., Summar M; Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia., Adeyemo AA; Center for Research on Genomics and Global Health, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Morris CA; Department of Pediatrics (Genetics Division), University of Nevada School of Medicine, Las Vegas, Nevada., Moretti-Ferreira D; Department of Genetics, Institute of Biosciences, Sao Paulo State University - UNESP, São Paulo, Brazil., Linguraru MG; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, District of Columbia., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2018 May; Vol. 176 (5), pp. 1128-1136.
DOI: 10.1002/ajmg.a.38672
Abstrakt: Williams-Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention given to other ethnicities. In this study, individuals with WBS from diverse populations were assessed clinically and by facial analysis technology. Clinical data and images from 137 individuals with WBS were found in 19 countries with an average age of 11 years and female gender of 45%. The most common clinical phenotype elements were periorbital fullness and intellectual disability which were present in greater than 90% of our cohort. Additionally, 75% or greater of all individuals with WBS had malar flattening, long philtrum, wide mouth, and small jaw. Using facial analysis technology, we compared 286 Asian, African, Caucasian, and Latin American individuals with WBS with 286 gender and age matched controls and found that the accuracy to discriminate between WBS and controls was 0.90 when the entire cohort was evaluated concurrently. The test accuracy of the facial recognition technology increased significantly when the cohort was analyzed by specific ethnic population (P-value < 0.001 for all comparisons), with accuracies for Caucasian, African, Asian, and Latin American groups of 0.92, 0.96, 0.92, and 0.93, respectively. In summary, we present consistent clinical findings from global populations with WBS and demonstrate how facial analysis technology can support clinicians in making accurate WBS diagnoses.
(© 2018 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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