Noonan syndrome in diverse populations

© 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, in...

Full description

Saved in:
Bibliographic Details
Main Authors: Kruszka P., Porras A., Addissie Y., Moresco A., Medrano S., Mok G., Leung G., Tekendo-Ngongang C., Uwineza A., Thong M., Muthukumarasamy P., Honey E., Ekure E., Sokunbi O., Kalu N., Jones K., Kaplan J., Abdul-Rahman O., Vincent L., Love A., Belhassan K., Ouldim K., El Bouchikhi I., Shukla A., Girisha K., Patil S., Sirisena N., Dissanayake V., Paththinige C., Mishra R., Klein-Zighelboim E., Gallardo Jugo B., Chávez Pastor M., Abarca-Barriga H., Skinner S., Prijoles E., Badoe E., Gill A., Shotelersuk V., Smpokou P., Kisling M., Ferreira C., Mutesa L., Megarbane A., Kline A., Kimball A., Okello E., Lwabi P., Aliku T., Tenywa E., Boonchooduang N., Tanpaiboon P., Richieri-Costa A., Wonkam A., Chung B., Stevenson R., Summar M., Mandal K., Phadke S., Obregon M., Linguraru M., Muenke M.
Format: Journal
Published: 2017
Online Access:https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85026314237&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/40160
Tags: Add Tag
No Tags, Be the first to tag this record!
Institution: Chiang Mai University
id th-cmuir.6653943832-40160
record_format dspace
spelling th-cmuir.6653943832-401602017-09-28T04:08:05Z Noonan syndrome in diverse populations Kruszka P. Porras A. Addissie Y. Moresco A. Medrano S. Mok G. Leung G. Tekendo-Ngongang C. Uwineza A. Thong M. Muthukumarasamy P. Honey E. Ekure E. Sokunbi O. Kalu N. Jones K. Kaplan J. Abdul-Rahman O. Vincent L. Love A. Belhassan K. Ouldim K. El Bouchikhi I. Shukla A. Girisha K. Patil S. Sirisena N. Dissanayake V. Paththinige C. Mishra R. Klein-Zighelboim E. Gallardo Jugo B. Chávez Pastor M. Abarca-Barriga H. Skinner S. Prijoles E. Badoe E. Gill A. Shotelersuk V. Smpokou P. Kisling M. Ferreira C. Mutesa L. Megarbane A. Kline A. Kimball A. Okello E. Lwabi P. Aliku T. Tenywa E. Boonchooduang N. Tanpaiboon P. Richieri-Costa A. Wonkam A. Chung B. Stevenson R. Summar M. Mandal K. Phadke S. Obregon M. Linguraru M. Muenke M. © 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. 2017-09-28T04:08:05Z 2017-09-28T04:08:05Z 9 Journal 15524825 2-s2.0-85026314237 10.1002/ajmg.a.38362 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85026314237&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/40160
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
description © 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.
format Journal
author Kruszka P.
Porras A.
Addissie Y.
Moresco A.
Medrano S.
Mok G.
Leung G.
Tekendo-Ngongang C.
Uwineza A.
Thong M.
Muthukumarasamy P.
Honey E.
Ekure E.
Sokunbi O.
Kalu N.
Jones K.
Kaplan J.
Abdul-Rahman O.
Vincent L.
Love A.
Belhassan K.
Ouldim K.
El Bouchikhi I.
Shukla A.
Girisha K.
Patil S.
Sirisena N.
Dissanayake V.
Paththinige C.
Mishra R.
Klein-Zighelboim E.
Gallardo Jugo B.
Chávez Pastor M.
Abarca-Barriga H.
Skinner S.
Prijoles E.
Badoe E.
Gill A.
Shotelersuk V.
Smpokou P.
Kisling M.
Ferreira C.
Mutesa L.
Megarbane A.
Kline A.
Kimball A.
Okello E.
Lwabi P.
Aliku T.
Tenywa E.
Boonchooduang N.
Tanpaiboon P.
Richieri-Costa A.
Wonkam A.
Chung B.
Stevenson R.
Summar M.
Mandal K.
Phadke S.
Obregon M.
Linguraru M.
Muenke M.
spellingShingle Kruszka P.
Porras A.
Addissie Y.
Moresco A.
Medrano S.
Mok G.
Leung G.
Tekendo-Ngongang C.
Uwineza A.
Thong M.
Muthukumarasamy P.
Honey E.
Ekure E.
Sokunbi O.
Kalu N.
Jones K.
Kaplan J.
Abdul-Rahman O.
Vincent L.
Love A.
Belhassan K.
Ouldim K.
El Bouchikhi I.
Shukla A.
Girisha K.
Patil S.
Sirisena N.
Dissanayake V.
Paththinige C.
Mishra R.
Klein-Zighelboim E.
Gallardo Jugo B.
Chávez Pastor M.
Abarca-Barriga H.
Skinner S.
Prijoles E.
Badoe E.
Gill A.
Shotelersuk V.
Smpokou P.
Kisling M.
Ferreira C.
Mutesa L.
Megarbane A.
Kline A.
Kimball A.
Okello E.
Lwabi P.
Aliku T.
Tenywa E.
Boonchooduang N.
Tanpaiboon P.
Richieri-Costa A.
Wonkam A.
Chung B.
Stevenson R.
Summar M.
Mandal K.
Phadke S.
Obregon M.
Linguraru M.
Muenke M.
Noonan syndrome in diverse populations
author_facet Kruszka P.
Porras A.
Addissie Y.
Moresco A.
Medrano S.
Mok G.
Leung G.
Tekendo-Ngongang C.
Uwineza A.
Thong M.
Muthukumarasamy P.
Honey E.
Ekure E.
Sokunbi O.
Kalu N.
Jones K.
Kaplan J.
Abdul-Rahman O.
Vincent L.
Love A.
Belhassan K.
Ouldim K.
El Bouchikhi I.
Shukla A.
Girisha K.
Patil S.
Sirisena N.
Dissanayake V.
Paththinige C.
Mishra R.
Klein-Zighelboim E.
Gallardo Jugo B.
Chávez Pastor M.
Abarca-Barriga H.
Skinner S.
Prijoles E.
Badoe E.
Gill A.
Shotelersuk V.
Smpokou P.
Kisling M.
Ferreira C.
Mutesa L.
Megarbane A.
Kline A.
Kimball A.
Okello E.
Lwabi P.
Aliku T.
Tenywa E.
Boonchooduang N.
Tanpaiboon P.
Richieri-Costa A.
Wonkam A.
Chung B.
Stevenson R.
Summar M.
Mandal K.
Phadke S.
Obregon M.
Linguraru M.
Muenke M.
author_sort Kruszka P.
title Noonan syndrome in diverse populations
title_short Noonan syndrome in diverse populations
title_full Noonan syndrome in diverse populations
title_fullStr Noonan syndrome in diverse populations
title_full_unstemmed Noonan syndrome in diverse populations
title_sort noonan syndrome in diverse populations
publishDate 2017
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85026314237&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/40160
_version_ 1681421758660345856