Williams-Beuren syndrome in diverse populations

Kruszka, Paul and Porras, Antonio R. and de Souza, Deise Helena and Moresco, Angélica and Huckstadt, Victoria and Gill, Ashleigh D. and Boyle, Alec P. and Hu, Tommy and Addissie, Yonit A. and Mok, Gary T. K. and Tekendo-Ngongang, Cedrik and Fieggen, Karen and Prijoles, Eloise J. and Tanpaiboon, Pranoot and Honey, Engela and Luk, Ho-Ming and Lo, Ivan F. M. and Thong, Meow Keong and Muthukumarasamy, Premala and Jones, Kelly L. and Belhassan, Khadija and Ouldim, Karim and El Bouchikhi, Ihssane and Bouguenouch, Laila and Shukla, Anju and Girisha, Katta M. and Sirisena, Nirmala D. and Dissanayake, Vajira H. W. and Paththinige, C. Sampath and Mishra, Rupesh and Kisling, Monisha S. and Ferreira, Carlos R. and de Herreros, María Beatriz and Lee, Ni-Chung and Jamuar, Saumya S. and Lai, Angeline and Tan, Ee Shien and Ying Lim, Jiin and Wen-Min, Cham Breana and Gupta, Neerja and Lotz-Esquivel, Stephanie and Badilla-Porras, Ramsés and Hussen, Dalia Farouk and El Ruby, Mona O. and Ashaat, Engy A. and Patil, Siddaramappa J. and Dowsett, Leah and Eaton, Alison and Innes, A. Micheil and Shotelersuk, Vorasuk and Badoe, Ëben and Wonkam, Ambroise and Obregon, María Gabriela and Chung, Brian H. Y. and Trubnykova, Milana and La Serna, Jorge and Gallardo Jugo, Bertha Elena and Chávez Pastor, Miguel and Abarca Barriga, Hugo Hernán and Megarbane, Andre and Kozel, Beth A. and van Haelst, Mieke M. and Stevenson, Roger E. and Summar, Marshall and Adeyemo, A. Adebowale and Morris, Colleen A. and Moretti-Ferreira, Danilo and Linguraru, Marius George and Muenke, Maximilian (2018) Williams-Beuren syndrome in diverse populations. American Journal of Medical Genetics Part A, 176 (5). pp. 1128-1136. ISSN 1552-4825, DOI https://doi.org/10.1002/ajmg.a.38672.

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Official URL: https://doi.org/10.1002/ajmg.a.38672


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.

Item Type: Article
Uncontrolled Keywords: Africa; Asia; diverse populations; facial analysis technology; Latin America; Middle East; syndrome; Williams; Williams–Beuren
Subjects: R Medicine
Divisions: Faculty of Medicine
Depositing User: Ms. Juhaida Abd Rahim
Date Deposited: 04 Jul 2019 09:02
Last Modified: 24 Oct 2019 04:23
URI: http://eprints.um.edu.my/id/eprint/21580

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