@article{a59268ff078e409cb1eb713a89ca1128,
title = "Craniofacial features of 3q29 deletion syndrome: Application of next-generation phenotyping technology",
abstract = "3q29 deletion syndrome (3q29del) is a recurrent deletion syndrome associated with neuropsychiatric disorders and congenital anomalies. Dysmorphic facial features have been described but not systematically characterized. This study aims to detail the 3q29del craniofacial phenotype and use a machine learning approach to categorize individuals with 3q29del through analysis of 2D photos. Detailed dysmorphology exam and 2D facial photos were ascertained from 31 individuals with 3q29del. Photos were used to train the next-generation phenotyping algorithm DeepGestalt (Face2Gene by FDNA, Inc, Boston, MA) to distinguish 3q29del cases from controls and all other recognized syndromes. Area under the curve of receiver operating characteristic curves (AUC-ROC) was used to determine the capacity of Face2Gene to identify 3q29del cases against controls. In this cohort, the most common observed craniofacial features were prominent forehead (48.4%), prominent nose tip (35.5%), and thin upper lip vermillion (25.8%). The FDNA technology showed an ability to distinguish cases from controls with an AUC-ROC value of 0.873 (p = 0.006) and led to the inclusion of 3q29del as one of the supported syndromes. This study found a recognizable facial pattern in 3q29del, as observed by trained clinical geneticists and next-generation phenotyping technology. These results expand the potential application of automated technology such as FDNA in identifying rare genetic syndromes, even when facial dysmorphology is subtle.",
keywords = "3q29 deletion syndrome, Face2Gene, craniofacial features, facial dysmorphism",
author = "{The Emory 3q29 Project} and Mak, {Bryan C.} and {Sanchez Russo}, Rossana and Gambello, {Michael J.} and Nicole Fleischer and Black, {Emily D.} and Elizabeth Leslie and Murphy, {Melissa M.} and Mulle, {Jennifer Gladys} and Bassell, {Gary J.} and Katrina Aberizk and Burrell, {T. Lindsey} and Shanthi Cambala and Tamara Caspary and Cubells, {Joseph F.} and David Culter and Dawson, {Paul A.} and Epstein, {Michael P.} and Ryan Guest and Goulding, {Sandra M.} and Johnston, {Henry R.} and Cheryl Klaiman and Sookyoung Koh and Michale Mortillo and Trenell Mosley and Becky Pollak and Ryan Purcell and Tim Rutkowski and Celine Saulnier and Jason Schroeder and Esra Sefik and Sarah Shultz and Walker, {Elaine F.} and Warren, {Stephen T.} and David Weinshenker and Zhexing Wen and Zwick, {Michael E.}",
note = "Funding Information: First, we would like to thank the participants and their families that made this study possible. They have taught us so much and without their willingness, our research would not have been possible. This research was completed as part of the Emory 3q29 Project. We would like to acknowledge the members: Jennifer Gladys Mulle, Gary J. Bassell, Katrina Aberizk, T. Lindsey Burrell, Shanthi Cambala, Tamara Caspary, Joseph F. Cubells, David Culter, Paul A. Dawson, Michael P. Epstein, Ryan Guest, Michael J. Gambello, Sandra M. Goulding, Henry R. Johnston, Cheryl Klaiman, Sookyoung Koh,Elizabeth J. Leslie, Bryan C. Mak, Michale Mortillo, Trenell Mosley, Melissa M. Murphy, Becky Pollak, Ryan Purcell, Tim Rutkowski, Rossana Sanchez, Celine Saulnier, Jason Schroeder, Esra Sefik, Sarah Shultz, Elaine F. Walker, Stephen T. Warren, David Weinshenker, Zhexing Wen, and Michael E. Zwick. We would like to thank FDNA for their contributions to this project. This manuscript was the final outcome of Bryan C. Mak's capstone project, a graduation requirement of Emory University Genetic Counseling Training Program. As such, we would like to express our gratitude to the leadership, faculty, and everyone involved with the Genetic Counseling Training Program. Publisher Copyright: {\textcopyright} 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.",
year = "2021",
month = jul,
doi = "10.1002/ajmg.a.62227",
language = "English (US)",
volume = "185",
pages = "2094--2101",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "7",
}