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Title: Noonan syndrome in diverse populations
Authors: Paul Kruszka
Antonio R. Porras
Yonit A. Addissie
Angélica Moresco
Sofia Medrano
Gary T.K. Mok
Gordon K.C. Leung
Cedrik Tekendo-Ngongang
Annette Uwineza
Meow Keong Thong
Premala Muthukumarasamy
Engela Honey
Ekanem N. Ekure
Ogochukwu J. Sokunbi
Nnenna Kalu
Kelly L. Jones
Julie D. Kaplan
Omar A. Abdul-Rahman
Lisa M. Vincent
Amber Love
Khadija Belhassan
Karim Ouldim
Ihssane El Bouchikhi
Anju Shukla
Katta M. Girisha
Siddaramappa J. Patil
Nirmala D. Sirisena
Vajira H.W. Dissanayake
C. Sampath Paththinige
Rupesh Mishra
Eva Klein-Zighelboim
Bertha E. Gallardo Jugo
Miguel Chávez Pastor
Hugo H. Abarca-Barriga
Steven A. Skinner
Eloise J. Prijoles
Eben Badoe
Ashleigh D. Gill
Vorasuk Shotelersuk
Patroula Smpokou
Monisha S. Kisling
Carlos R. Ferreira
Leon Mutesa
Andre Megarbane
Antonie D. Kline
Amy Kimball
Emmy Okello
Peter Lwabi
Twalib Aliku
Emmanuel Tenywa
Nonglak Boonchooduang
Pranoot Tanpaiboon
Antonio Richieri-Costa
Ambroise Wonkam
Brian H.Y. Chung
Roger E. Stevenson
Marshall Summar
Kausik Mandal
Shubha R. Phadke
María G. Obregon
Marius G. Linguraru
Maximilian Muenke
Keywords: Biochemistry, Genetics and Molecular Biology
Issue Date: 1-Sep-2017
Abstract: © 2017 Wiley Periodicals, Inc. Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized in populations of European descent with less attention given to other groups. In this study, individuals from diverse populations with NS were evaluated clinically and by facial analysis technology. Clinical data and images from 125 individuals with NS were obtained from 20 countries with an average age of 8 years and female composition of 46%. Individuals were grouped into categories of African descent (African), Asian, Latin American, and additional/other. Across these different population groups, NS was phenotypically similar with only 2 of 21 clinical elements showing a statistically significant difference. The most common clinical characteristics found in all population groups included widely spaced eyes and low-set ears in 80% or greater of participants, short stature in more than 70%, and pulmonary stenosis in roughly half of study individuals. Using facial analysis technology, we compared 161 Caucasian, African, Asian, and Latin American individuals with NS with 161 gender and age matched controls and found that sensitivity was equal to or greater than 94% for all groups, and specificity was equal to or greater than 90%. In summary, we present consistent clinical findings from global populations with NS and additionally demonstrate how facial analysis technology can support clinicians in making accurate NS diagnoses. This work will assist in earlier detection and in increasing recognition of NS throughout the world.
ISSN: 15524833
Appears in Collections:CMUL: Journal Articles

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