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, 173 (9), 2323-2334

Noonan Syndrome in Diverse Populations

Paul Kruszka  1 Antonio R Porras  2 Yonit A Addissie  1 Angélica Moresco  3 Sofia Medrano  3 Gary T K Mok  4 Gordon K C Leung  4 Cedrik Tekendo-Ngongang  5 Annette Uwineza  6 Meow-Keong Thong  7 Premala Muthukumarasamy  7 Engela Honey  8 Ekanem N Ekure  9 Ogochukwu J Sokunbi  9 Nnenna Kalu  9 Kelly L Jones  10 Julie D Kaplan  10 Omar A Abdul-Rahman  10 Lisa M Vincent  11 Amber Love  11 Khadija Belhassan  1   12 Karim Ouldim  12 Ihssane El Bouchikhi  12   13 Anju Shukla  14 Katta M Girisha  14 Siddaramappa J Patil  15 Nirmala D Sirisena  16 Vajira H W Dissanayake  16 C Sampath Paththinige  16 Rupesh Mishra  16 Eva Klein-Zighelboim  17 Bertha E Gallardo Jugo  17 Miguel Chávez Pastor  17 Hugo H Abarca-Barriga  17 Steven A Skinner  18 Eloise J Prijoles  18 Eben Badoe  19 Ashleigh D Gill  1 Vorasuk Shotelersuk  20 Patroula Smpokou  21 Monisha S Kisling  21 Carlos R Ferreira  21 Leon Mutesa  6 Andre Megarbane  22 Antonie D Kline  23 Amy Kimball  23 Emmy Okello  24 Peter Lwabi  24 Twalib Aliku  24 Emmanuel Tenywa  24   25 Nonglak Boonchooduang  26 Pranoot Tanpaiboon  21 Antonio Richieri-Costa  27 Ambroise Wonkam  5 Brian H Y Chung  4 Roger E Stevenson  18 Marshall Summar  21 Kausik Mandal  28 Shubha R Phadke  28 María G Obregon  3 Marius G Linguraru  2 Maximilian Muenke  1
Affiliations

Noonan Syndrome in Diverse Populations

Paul Kruszka et al. Am J Med Genet A.

Abstract

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.

Keywords: Africa; Asia; Latin America; Middle East; Noonan syndrome; diverse populations; facial analysis technology.

Figures

Figure 1
Figure 1
Facial landmarks on a Noonan syndrome patient. Inner facial landmarks are represented in red, while external landmarks are represented in blue. Blue lines indicate the calculated distances. Green circles represent the corners of the calculated angles. Texture features are extracted only from the inner facial landmarks.
Figure 2
Figure 2
Frontal and lateral facial profiles of individuals of African descent with Noonan syndrome. Gender, age, and country of origin found in Supplementary Table I. a(Ndiaye et al., 2014) b(Lee and Sakhalkar 2014)
Figure 3
Figure 3
Frontal and lateral facial profiles of Asian individuals with Noonan syndrome. Gender, age, and country of origin found in Supplementary Table I. c(Aoki et al., 2013) d(Edwards et al., 2014) e(Addissie et al., 2015) f(Yaoita et al., 2016)
Figure 4
Figure 4
Frontal and lateral facial profiles of Latin Americans with Noonan syndrome. Gender, age, and country of origin found in Supplementary Table I.
Figure 5
Figure 5
Sequential photos of individuals with Noonan syndrome at different ages. Gender, age, and country of origin found in Supplementary Table I.
Figure 6
Figure 6
Facial and torso profiles of individuals of African descent with Noonan syndrome. Gender, age, and country of origin found in Supplementary Table I.
Figure 7
Figure 7
Facial and torso profiles of individuals of Asian individuals with Noonan syndrome. Gender, age, and country of origin found in Supplementary Table I.
Figure 8
Figure 8
Facial and torso profiles of individuals of Latin American individuals with Noonan syndrome. Gender, age, and country of origin found in Supplementary Table I.

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