Turner syndrome in diverse populations

Paul Kruszka, Yonit A. Addissie, Cedrik Tekendo-Ngongang, Kelly L. Jones, Sarah K. Savage, Neerja Gupta, Nirmala D. Sirisena, Vajira H.W. Dissanayake, C. Sampath Paththinige, Teresa Aravena, Sheela Nampoothiri, Dhanya Yesodharan, Katta M. Girisha, Siddaramappa Jagdish Patil, Saumya Shekhar Jamuar, Jasmine Chew Yin Goh, Agustini Utari, Nydia Sihombing, Rupesh Mishra, Neer Shoba ChitrakarBrenda C. Iriele, Ezana Lulseged, Andre Megarbane, Annette Uwineza, Elizabeth Eberechi Oyenusi, Oluwarotimi Bolaji Olopade, Olufemi Adetola Fasanmade, Milagros M. Duenas-Roque, Meow Keong Thong, Joanna Y.L. Tung, Gary T.K. Mok, Nicole Fleischer, Godfrey M. Rwegerera, María Beatriz de Herreros, Johnathan Watts, Karen Fieggen, Victoria Huckstadt, Angélica Moresco, María Gabriela Obregon, Dalia Farouk Hussen, Neveen A. Ashaat, Engy A. Ashaat, Brian H.Y. Chung, Eben Badoe, Sultana M.H. Faradz, Mona O. El Ruby, Vorasuk Shotelersuk, Ambroise Wonkam, Ekanem Nsikak Ekure, Shubha R. Phadke, Antonio Richieri-Costa, Maximilian Muenke

Research output: Contribution to journalArticle

Abstract

Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals with TS from 19 different countries were analyzed. Individuals were grouped into categories of African descent (African), Asian, Latin American, Caucasian (European descent), and Middle Eastern. The most common phenotype features across all population groups were short stature (86%), cubitus valgus (76%), and low posterior hairline 70%. Two facial analysis technology experiments were conducted: TS versus general population and TS versus Noonan syndrome. Across all ethnicities, facial analysis was accurate in diagnosing TS from frontal facial images as measured by the area under the curve (AUC). An AUC of 0.903 (p <.001) was found for TS versus general population controls and 0.925 (p <.001) for TS versus individuals with Noonan syndrome. In summary, we present consistent clinical findings from global populations with TS and additionally demonstrate that facial analysis technology can accurately distinguish TS from the general population and Noonan syndrome.

Original languageEnglish
JournalAmerican Journal of Medical Genetics, Part A
DOIs
Publication statusAccepted/In press - 01-01-2019

Fingerprint

Turner Syndrome
Population
Noonan Syndrome
Technology
Area Under Curve
Phenotype
Population Control
Asian Americans
X Chromosome
Population Groups

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Kruszka, P., Addissie, Y. A., Tekendo-Ngongang, C., Jones, K. L., Savage, S. K., Gupta, N., ... Muenke, M. (Accepted/In press). Turner syndrome in diverse populations. American Journal of Medical Genetics, Part A. https://doi.org/10.1002/ajmg.a.61461
Kruszka, Paul ; Addissie, Yonit A. ; Tekendo-Ngongang, Cedrik ; Jones, Kelly L. ; Savage, Sarah K. ; Gupta, Neerja ; Sirisena, Nirmala D. ; Dissanayake, Vajira H.W. ; Paththinige, C. Sampath ; Aravena, Teresa ; Nampoothiri, Sheela ; Yesodharan, Dhanya ; Girisha, Katta M. ; Patil, Siddaramappa Jagdish ; Jamuar, Saumya Shekhar ; Goh, Jasmine Chew Yin ; Utari, Agustini ; Sihombing, Nydia ; Mishra, Rupesh ; Chitrakar, Neer Shoba ; Iriele, Brenda C. ; Lulseged, Ezana ; Megarbane, Andre ; Uwineza, Annette ; Oyenusi, Elizabeth Eberechi ; Olopade, Oluwarotimi Bolaji ; Fasanmade, Olufemi Adetola ; Duenas-Roque, Milagros M. ; Thong, Meow Keong ; Tung, Joanna Y.L. ; Mok, Gary T.K. ; Fleischer, Nicole ; Rwegerera, Godfrey M. ; de Herreros, María Beatriz ; Watts, Johnathan ; Fieggen, Karen ; Huckstadt, Victoria ; Moresco, Angélica ; Obregon, María Gabriela ; Hussen, Dalia Farouk ; Ashaat, Neveen A. ; Ashaat, Engy A. ; Chung, Brian H.Y. ; Badoe, Eben ; Faradz, Sultana M.H. ; El Ruby, Mona O. ; Shotelersuk, Vorasuk ; Wonkam, Ambroise ; Ekure, Ekanem Nsikak ; Phadke, Shubha R. ; Richieri-Costa, Antonio ; Muenke, Maximilian. / Turner syndrome in diverse populations. In: American Journal of Medical Genetics, Part A. 2019.
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Kruszka, P, Addissie, YA, Tekendo-Ngongang, C, Jones, KL, Savage, SK, Gupta, N, Sirisena, ND, Dissanayake, VHW, Paththinige, CS, Aravena, T, Nampoothiri, S, Yesodharan, D, Girisha, KM, Patil, SJ, Jamuar, SS, Goh, JCY, Utari, A, Sihombing, N, Mishra, R, Chitrakar, NS, Iriele, BC, Lulseged, E, Megarbane, A, Uwineza, A, Oyenusi, EE, Olopade, OB, Fasanmade, OA, Duenas-Roque, MM, Thong, MK, Tung, JYL, Mok, GTK, Fleischer, N, Rwegerera, GM, de Herreros, MB, Watts, J, Fieggen, K, Huckstadt, V, Moresco, A, Obregon, MG, Hussen, DF, Ashaat, NA, Ashaat, EA, Chung, BHY, Badoe, E, Faradz, SMH, El Ruby, MO, Shotelersuk, V, Wonkam, A, Ekure, EN, Phadke, SR, Richieri-Costa, A & Muenke, M 2019, 'Turner syndrome in diverse populations', American Journal of Medical Genetics, Part A. https://doi.org/10.1002/ajmg.a.61461

Turner syndrome in diverse populations. / Kruszka, Paul; Addissie, Yonit A.; Tekendo-Ngongang, Cedrik; Jones, Kelly L.; Savage, Sarah K.; Gupta, Neerja; Sirisena, Nirmala D.; Dissanayake, Vajira H.W.; Paththinige, C. Sampath; Aravena, Teresa; Nampoothiri, Sheela; Yesodharan, Dhanya; Girisha, Katta M.; Patil, Siddaramappa Jagdish; Jamuar, Saumya Shekhar; Goh, Jasmine Chew Yin; Utari, Agustini; Sihombing, Nydia; Mishra, Rupesh; Chitrakar, Neer Shoba; Iriele, Brenda C.; Lulseged, Ezana; Megarbane, Andre; Uwineza, Annette; Oyenusi, Elizabeth Eberechi; Olopade, Oluwarotimi Bolaji; Fasanmade, Olufemi Adetola; Duenas-Roque, Milagros M.; Thong, Meow Keong; Tung, Joanna Y.L.; Mok, Gary T.K.; Fleischer, Nicole; Rwegerera, Godfrey M.; de Herreros, María Beatriz; Watts, Johnathan; Fieggen, Karen; Huckstadt, Victoria; Moresco, Angélica; Obregon, María Gabriela; Hussen, Dalia Farouk; Ashaat, Neveen A.; Ashaat, Engy A.; Chung, Brian H.Y.; Badoe, Eben; Faradz, Sultana M.H.; El Ruby, Mona O.; Shotelersuk, Vorasuk; Wonkam, Ambroise; Ekure, Ekanem Nsikak; Phadke, Shubha R.; Richieri-Costa, Antonio; Muenke, Maximilian.

In: American Journal of Medical Genetics, Part A, 01.01.2019.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Turner syndrome in diverse populations

AU - Kruszka, Paul

AU - Addissie, Yonit A.

AU - Tekendo-Ngongang, Cedrik

AU - Jones, Kelly L.

AU - Savage, Sarah K.

AU - Gupta, Neerja

AU - Sirisena, Nirmala D.

AU - Dissanayake, Vajira H.W.

AU - Paththinige, C. Sampath

AU - Aravena, Teresa

AU - Nampoothiri, Sheela

AU - Yesodharan, Dhanya

AU - Girisha, Katta M.

AU - Patil, Siddaramappa Jagdish

AU - Jamuar, Saumya Shekhar

AU - Goh, Jasmine Chew Yin

AU - Utari, Agustini

AU - Sihombing, Nydia

AU - Mishra, Rupesh

AU - Chitrakar, Neer Shoba

AU - Iriele, Brenda C.

AU - Lulseged, Ezana

AU - Megarbane, Andre

AU - Uwineza, Annette

AU - Oyenusi, Elizabeth Eberechi

AU - Olopade, Oluwarotimi Bolaji

AU - Fasanmade, Olufemi Adetola

AU - Duenas-Roque, Milagros M.

AU - Thong, Meow Keong

AU - Tung, Joanna Y.L.

AU - Mok, Gary T.K.

AU - Fleischer, Nicole

AU - Rwegerera, Godfrey M.

AU - de Herreros, María Beatriz

AU - Watts, Johnathan

AU - Fieggen, Karen

AU - Huckstadt, Victoria

AU - Moresco, Angélica

AU - Obregon, María Gabriela

AU - Hussen, Dalia Farouk

AU - Ashaat, Neveen A.

AU - Ashaat, Engy A.

AU - Chung, Brian H.Y.

AU - Badoe, Eben

AU - Faradz, Sultana M.H.

AU - El Ruby, Mona O.

AU - Shotelersuk, Vorasuk

AU - Wonkam, Ambroise

AU - Ekure, Ekanem Nsikak

AU - Phadke, Shubha R.

AU - Richieri-Costa, Antonio

AU - Muenke, Maximilian

PY - 2019/1/1

Y1 - 2019/1/1

N2 - Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals with TS from 19 different countries were analyzed. Individuals were grouped into categories of African descent (African), Asian, Latin American, Caucasian (European descent), and Middle Eastern. The most common phenotype features across all population groups were short stature (86%), cubitus valgus (76%), and low posterior hairline 70%. Two facial analysis technology experiments were conducted: TS versus general population and TS versus Noonan syndrome. Across all ethnicities, facial analysis was accurate in diagnosing TS from frontal facial images as measured by the area under the curve (AUC). An AUC of 0.903 (p <.001) was found for TS versus general population controls and 0.925 (p <.001) for TS versus individuals with Noonan syndrome. In summary, we present consistent clinical findings from global populations with TS and additionally demonstrate that facial analysis technology can accurately distinguish TS from the general population and Noonan syndrome.

AB - Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals with TS from 19 different countries were analyzed. Individuals were grouped into categories of African descent (African), Asian, Latin American, Caucasian (European descent), and Middle Eastern. The most common phenotype features across all population groups were short stature (86%), cubitus valgus (76%), and low posterior hairline 70%. Two facial analysis technology experiments were conducted: TS versus general population and TS versus Noonan syndrome. Across all ethnicities, facial analysis was accurate in diagnosing TS from frontal facial images as measured by the area under the curve (AUC). An AUC of 0.903 (p <.001) was found for TS versus general population controls and 0.925 (p <.001) for TS versus individuals with Noonan syndrome. In summary, we present consistent clinical findings from global populations with TS and additionally demonstrate that facial analysis technology can accurately distinguish TS from the general population and Noonan syndrome.

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JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

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Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N et al. Turner syndrome in diverse populations. American Journal of Medical Genetics, Part A. 2019 Jan 1. https://doi.org/10.1002/ajmg.a.61461