Noonan syndrome in diverse populations

Shukla, Anju and Girisha, KM (2017) Noonan syndrome in diverse populations. American Journal of Medical Genetics Part - A, 173 (9). pp. 2323-2334. ISSN 1552-4833

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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 lowset 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 than94%for all groups, and specificity was equal to or greater than 90%. In summary, we present consistent clinical findings from global populations with NSand 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.

Item Type: Article
Uncontrolled Keywords: Africa; Asia; diverse populations; facial analysis technology; Latin America; Middle East; Noonan syndrome.
Subjects: Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 18 Sep 2017 10:58
Last Modified: 18 Sep 2017 10:58
URI: http://eprints.manipal.edu/id/eprint/149703

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