TY - JOUR
T1 - Noonan syndrome in diverse populations
AU - Kruszka, Paul
AU - Porras, Antonio R.
AU - Addissie, Yonit A.
AU - Moresco, Angélica
AU - Medrano, Sofia
AU - Mok, Gary T.K.
AU - Leung, Gordon K.C.
AU - Tekendo-Ngongang, Cedrik
AU - Uwineza, Annette
AU - Thong, Meow Keong
AU - Muthukumarasamy, Premala
AU - Honey, Engela
AU - Ekure, Ekanem N.
AU - Sokunbi, Ogochukwu J.
AU - Kalu, Nnenna
AU - Jones, Kelly L.
AU - Kaplan, Julie D.
AU - Abdul-Rahman, Omar A.
AU - Vincent, Lisa M.
AU - Love, Amber
AU - Belhassan, Khadija
AU - Ouldim, Karim
AU - El Bouchikhi, Ihssane
AU - Shukla, Anju
AU - Girisha, Katta M.
AU - Patil, Siddaramappa J.
AU - Sirisena, Nirmala D.
AU - Dissanayake, Vajira H.W.
AU - Paththinige, C. Sampath
AU - Mishra, Rupesh
AU - Klein-Zighelboim, Eva
AU - Gallardo Jugo, Bertha E.
AU - Chávez Pastor, Miguel
AU - Abarca-Barriga, Hugo H.
AU - Skinner, Steven A.
AU - Prijoles, Eloise J.
AU - Badoe, Eben
AU - Gill, Ashleigh D.
AU - Shotelersuk, Vorasuk
AU - Smpokou, Patroula
AU - Kisling, Monisha S.
AU - Ferreira, Carlos R.
AU - Mutesa, Leon
AU - Megarbane, Andre
AU - Kline, Antonie D.
AU - Kimball, Amy
AU - Okello, Emmy
AU - Lwabi, Peter
AU - Aliku, Twalib
AU - Tenywa, Emmanuel
AU - Boonchooduang, Nonglak
AU - Tanpaiboon, Pranoot
AU - Richieri-Costa, Antonio
AU - Wonkam, Ambroise
AU - Chung, Brian H.Y.
AU - Stevenson, Roger E.
AU - Summar, Marshall
AU - Mandal, Kausik
AU - Phadke, Shubha R.
AU - Obregon, María G.
AU - Linguraru, Marius G.
AU - Muenke, Maximilian
N1 - Publisher Copyright:
© 2017 Wiley Periodicals, Inc.
PY - 2017/9
Y1 - 2017/9
N2 - 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.
AB - 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.
KW - Africa
KW - Asia
KW - Latin America
KW - Middle East
KW - Noonan syndrome
KW - diverse populations
KW - facial analysis technology
UR - http://www.scopus.com/inward/record.url?scp=85026314237&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85026314237&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.38362
DO - 10.1002/ajmg.a.38362
M3 - Article
C2 - 28748642
AN - SCOPUS:85026314237
SN - 1552-4825
VL - 173
SP - 2323
EP - 2334
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 9
ER -