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Noonan syndrome in diverse populations
Author(s) -
Kruszka Paul,
Porras Antonio R.,
Addissie Yonit A.,
Moresco Angélica,
Medrano Sofia,
Mok Gary T. K.,
Leung Gordon K. C.,
TekendoNgongang Cedrik,
Uwineza Annette,
Thong MeowKeong,
Muthukumarasamy Premala,
Honey Engela,
Ekure Ekanem N.,
Sokunbi Ogochukwu J.,
Kalu Nnenna,
Jones Kelly L.,
Kaplan Julie D.,
AbdulRahman Omar A.,
Vincent Lisa M.,
Love Amber,
Belhassan Khadija,
Ouldim Karim,
El Bouchikhi Ihssane,
Shukla Anju,
Girisha Katta M.,
Patil Siddaramappa J.,
Siriseirmala D.,
Dissanayake Vajira H. W.,
Paththinige C. Sampath,
Mishra Rupesh,
KleinZighelboim Eva,
Gallardo Jugo Bertha E.,
Chávez Pastor Miguel,
AbarcaBarriga Hugo H.,
Skinner Steven A.,
Prijoles Eloise J.,
Badoe Eben,
Gill Ashleigh D.,
Shotelersuk Vorasuk,
Smpokou Patroula,
Kisling Monisha S.,
Ferreira Carlos R.,
Mutesa Leon,
Megarbane Andre,
Kline Antonie D.,
Kimball Amy,
Okello Emmy,
Lwabi Peter,
Aliku Twalib,
Tenywa Emmanuel,
Boonchooduang glak,
Tanpaiboon Pranoot,
RichieriCosta Antonio,
Wonkam Ambroise,
Chung Brian H. Y.,
Stevenson Roger E.,
Summar Marshall,
Mandal Kausik,
Phadke Shubha R.,
Obregon María G.,
Linguraru Marius G.,
Muenke Maximilian
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38362
Subject(s) - noonan syndrome , demography , short stature , population , african descent , medicine , latin americans , linguistics , philosophy , sociology , anthropology
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.