Williams–Beuren syndrome in diverse populations

Paul Kruszka, Antonio R. Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt, Ashleigh D. Gill, Alec P. Boyle, Tommy Hu, Yonit A. Addissie, Gary T.K. Mok, Cedrik Tekendo-Ngongang, Karen Fieggen, Eloise J. Prijoles, Pranoot Tanpaiboon, Engela Honey, Ho Ming Luk, Ivan F.M. Lo, Meow Keong Thong, Premala Muthukumarasamy, Kelly L. JonesKhadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Laila Bouguenouch, Anju Shukla, Katta M. Girisha, Nirmala D. Sirisena, Vajira H.W. Dissanayake, C. Sampath Paththinige, Rupesh Mishra, Monisha S. Kisling, Carlos R. Ferreira, María Beatriz de Herreros, Ni Chung Lee, Saumya S. Jamuar, Angeline Lai, Ee Shien Tan, Jiin Ying Lim, Cham Breana Wen-Min, Neerja Gupta, Stephanie Lotz-Esquivel, Ramsés Badilla-Porras, Dalia Farouk Hussen, Mona O. El Ruby, Engy A. Ashaat, Siddaramappa J. Patil, Leah Dowsett, Alison Eaton, A. Micheil Innes, Vorasuk Shotelersuk

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1128-1136
Number of pages9
JournalAmerican Journal of Medical Genetics, Part A
Volume176
Issue number5
DOIs
Publication statusPublished - 01-05-2018

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Population
Technology
Phenotype
Asian Americans
Lip
Jaw
Intellectual Disability
Mouth

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Kruszka, P., Porras, A. R., de Souza, D. H., Moresco, A., Huckstadt, V., Gill, A. D., ... Shotelersuk, V. (2018). Williams–Beuren syndrome in diverse populations. American Journal of Medical Genetics, Part A, 176(5), 1128-1136. https://doi.org/10.1002/ajmg.a.38672
Kruszka, Paul ; Porras, Antonio R. ; de Souza, Deise Helena ; Moresco, Angélica ; Huckstadt, Victoria ; Gill, Ashleigh D. ; Boyle, Alec P. ; Hu, Tommy ; Addissie, Yonit A. ; Mok, Gary T.K. ; Tekendo-Ngongang, Cedrik ; Fieggen, Karen ; Prijoles, Eloise J. ; Tanpaiboon, Pranoot ; Honey, Engela ; Luk, Ho Ming ; Lo, Ivan F.M. ; Thong, Meow Keong ; Muthukumarasamy, Premala ; Jones, Kelly L. ; Belhassan, Khadija ; Ouldim, Karim ; El Bouchikhi, Ihssane ; Bouguenouch, Laila ; Shukla, Anju ; Girisha, Katta M. ; Sirisena, Nirmala D. ; Dissanayake, Vajira H.W. ; Paththinige, C. Sampath ; Mishra, Rupesh ; Kisling, Monisha S. ; Ferreira, Carlos R. ; de Herreros, María Beatriz ; Lee, Ni Chung ; Jamuar, Saumya S. ; Lai, Angeline ; Tan, Ee Shien ; Ying Lim, Jiin ; Wen-Min, Cham Breana ; Gupta, Neerja ; Lotz-Esquivel, Stephanie ; Badilla-Porras, Ramsés ; Hussen, Dalia Farouk ; El Ruby, Mona O. ; Ashaat, Engy A. ; Patil, Siddaramappa J. ; Dowsett, Leah ; Eaton, Alison ; Innes, A. Micheil ; Shotelersuk, Vorasuk. / Williams–Beuren syndrome in diverse populations. In: American Journal of Medical Genetics, Part A. 2018 ; Vol. 176, No. 5. pp. 1128-1136.
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Kruszka, P, Porras, AR, de Souza, DH, Moresco, A, Huckstadt, V, Gill, AD, Boyle, AP, Hu, T, Addissie, YA, Mok, GTK, Tekendo-Ngongang, C, Fieggen, K, Prijoles, EJ, Tanpaiboon, P, Honey, E, Luk, HM, Lo, IFM, Thong, MK, Muthukumarasamy, P, Jones, KL, Belhassan, K, Ouldim, K, El Bouchikhi, I, Bouguenouch, L, Shukla, A, Girisha, KM, Sirisena, ND, Dissanayake, VHW, Paththinige, CS, Mishra, R, Kisling, MS, Ferreira, CR, de Herreros, MB, Lee, NC, Jamuar, SS, Lai, A, Tan, ES, Ying Lim, J, Wen-Min, CB, Gupta, N, Lotz-Esquivel, S, Badilla-Porras, R, Hussen, DF, El Ruby, MO, Ashaat, EA, Patil, SJ, Dowsett, L, Eaton, A, Innes, AM & Shotelersuk, V 2018, 'Williams–Beuren syndrome in diverse populations', American Journal of Medical Genetics, Part A, vol. 176, no. 5, pp. 1128-1136. https://doi.org/10.1002/ajmg.a.38672

Williams–Beuren syndrome in diverse populations. / Kruszka, Paul; Porras, Antonio R.; de Souza, Deise Helena; Moresco, Angélica; Huckstadt, Victoria; Gill, Ashleigh D.; Boyle, Alec P.; Hu, Tommy; Addissie, Yonit A.; Mok, Gary T.K.; Tekendo-Ngongang, Cedrik; Fieggen, Karen; Prijoles, Eloise J.; Tanpaiboon, Pranoot; Honey, Engela; Luk, Ho Ming; Lo, Ivan F.M.; Thong, Meow Keong; Muthukumarasamy, Premala; Jones, Kelly L.; Belhassan, Khadija; Ouldim, Karim; El Bouchikhi, Ihssane; Bouguenouch, Laila; Shukla, Anju; Girisha, Katta M.; Sirisena, Nirmala D.; Dissanayake, Vajira H.W.; Paththinige, C. Sampath; Mishra, Rupesh; Kisling, Monisha S.; Ferreira, Carlos R.; de Herreros, María Beatriz; Lee, Ni Chung; Jamuar, Saumya S.; Lai, Angeline; Tan, Ee Shien; Ying Lim, Jiin; Wen-Min, Cham Breana; Gupta, Neerja; Lotz-Esquivel, Stephanie; Badilla-Porras, Ramsés; Hussen, Dalia Farouk; El Ruby, Mona O.; Ashaat, Engy A.; Patil, Siddaramappa J.; Dowsett, Leah; Eaton, Alison; Innes, A. Micheil; Shotelersuk, Vorasuk.

In: American Journal of Medical Genetics, Part A, Vol. 176, No. 5, 01.05.2018, p. 1128-1136.

Research output: Contribution to journalArticle

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T1 - Williams–Beuren syndrome in diverse populations

AU - Kruszka, Paul

AU - Porras, Antonio R.

AU - de Souza, Deise Helena

AU - Moresco, Angélica

AU - Huckstadt, Victoria

AU - Gill, Ashleigh D.

AU - Boyle, Alec P.

AU - Hu, Tommy

AU - Addissie, Yonit A.

AU - Mok, Gary T.K.

AU - Tekendo-Ngongang, Cedrik

AU - Fieggen, Karen

AU - Prijoles, Eloise J.

AU - Tanpaiboon, Pranoot

AU - Honey, Engela

AU - Luk, Ho Ming

AU - Lo, Ivan F.M.

AU - Thong, Meow Keong

AU - Muthukumarasamy, Premala

AU - Jones, Kelly L.

AU - Belhassan, Khadija

AU - Ouldim, Karim

AU - El Bouchikhi, Ihssane

AU - Bouguenouch, Laila

AU - Shukla, Anju

AU - Girisha, Katta M.

AU - Sirisena, Nirmala D.

AU - Dissanayake, Vajira H.W.

AU - Paththinige, C. Sampath

AU - Mishra, Rupesh

AU - Kisling, Monisha S.

AU - Ferreira, Carlos R.

AU - de Herreros, María Beatriz

AU - Lee, Ni Chung

AU - Jamuar, Saumya S.

AU - Lai, Angeline

AU - Tan, Ee Shien

AU - Ying Lim, Jiin

AU - Wen-Min, Cham Breana

AU - Gupta, Neerja

AU - Lotz-Esquivel, Stephanie

AU - Badilla-Porras, Ramsés

AU - Hussen, Dalia Farouk

AU - El Ruby, Mona O.

AU - Ashaat, Engy A.

AU - Patil, Siddaramappa J.

AU - Dowsett, Leah

AU - Eaton, Alison

AU - Innes, A. Micheil

AU - Shotelersuk, Vorasuk

PY - 2018/5/1

Y1 - 2018/5/1

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Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD et al. Williams–Beuren syndrome in diverse populations. American Journal of Medical Genetics, Part A. 2018 May 1;176(5):1128-1136. https://doi.org/10.1002/ajmg.a.38672