Turner syndrome in diverse populations

• Published in: American journal of medical genetics. Part A Vol. 182; no. 2; pp. 303 - 313
• Main Authors: 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., 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
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01-02-2020; Wiley Subscription Services, Inc
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - epidemiology; Abnormalities, Multiple - genetics; Abnormalities, Multiple - physiopathology; Adolescent; Adult; Asian People - genetics; Child; Child, Preschool; Chromosomes, Human, X - genetics; diverse populations; Face - abnormalities; Face - pathology; facial analysis technology; Facial Recognition; Female; Genetic disorders; health disparities; Hispanic or Latino - genetics; Humans; Infant; Infant, Newborn; Male; Middle Aged; Noonan Syndrome - diagnosis; Noonan Syndrome - epidemiology; Noonan Syndrome - genetics; Noonan Syndrome - physiopathology; Noonan's syndrome; Phenotype; Phenotypes; Population; Population Surveillance; Turner syndrome; Turner Syndrome - diagnosis; Turner Syndrome - epidemiology; Turner Syndrome - genetics; Turner Syndrome - physiopathology; Turner's syndrome; White People - genetics; X Chromosomes; Young Adult; diverse populations; health disparities; Turner syndrome; facial analysis technology
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.61461

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.