Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
Details
Serval ID
serval:BIB_5FB010BE5972
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
Journal
European journal of human genetics
ISSN
1476-5438 (Electronic)
ISSN-L
1018-4813
Publication state
Published
Issued date
06/2022
Peer-reviewed
Oui
Volume
30
Number
6
Pages
682-686
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Publication Status: ppublish
Abstract
Kabuki syndrome (KS) is a rare genetic disorder caused by mutations in two major genes, KMT2D and KDM6A, that are responsible for Kabuki syndrome 1 (KS1, OMIM147920) and Kabuki syndrome 2 (KS2, OMIM300867), respectively. We lack a description of clinical signs to distinguish KS1 and KS2. We used facial morphology analysis to detect any facial morphological differences between the two KS types. We used a facial-recognition algorithm to explore any facial morphologic differences between the two types of KS. We compared several image series of KS1 and KS2 individuals, then compared images of those of Caucasian origin only (12 individuals for each gene) because this was the main ethnicity in this series. We also collected 32 images from the literature to amass a large series. We externally validated results obtained by the algorithm with evaluations by trained clinical geneticists using the same set of pictures. Use of the algorithm revealed a statistically significant difference between each group for our series of images, demonstrating a different facial morphotype between KS1 and KS2 individuals (mean area under the receiver operating characteristic curve = 0.85 [p = 0.027] between KS1 and KS2). The algorithm was better at discriminating between the two types of KS with images from our series than those from the literature (p = 0.0007). Clinical geneticists trained to distinguished KS1 and KS2 significantly recognised a unique facial morphotype, which validated algorithm findings (p = 1.6e-11). Our deep-neural-network-driven facial-recognition algorithm can reveal specific composite gestalt images for KS1 and KS2 individuals.
Keywords
Abnormalities, Multiple/diagnosis, Abnormalities, Multiple/genetics, Face/abnormalities, Facial Recognition, Hematologic Diseases/diagnosis, Hematologic Diseases/genetics, Humans, Mutation, Vestibular Diseases/diagnosis, Vestibular Diseases/genetics
Pubmed
Web of science
Open Access
Yes
Create date
03/12/2021 17:55
Last modification date
31/10/2023 7:09