Craniofacial features of 3q29 deletion syndrome: Application of next‐generation phenotyping technology
| العنوان: | Craniofacial features of 3q29 deletion syndrome: Application of next‐generation phenotyping technology |
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| المؤلفون: | Jennifer G. Mulle, Rossana Sanchez Russo, Melissa M. Murphy, Nicole Fleischer, Emory q, Emily Black, Elizabeth J. Leslie, Bryan C Mak, Michael J. Gambello |
| المصدر: | American Journal of Medical Genetics. Part a |
| بيانات النشر: | Wiley, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Adult, Male, 0301 basic medicine, medicine.medical_specialty, craniofacial features, Adolescent, Genetic syndromes, Prominent forehead, 030105 genetics & heredity, Craniofacial Abnormalities, Young Adult, 03 medical and health sciences, Intellectual Disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, Deletion syndrome, Dysmorphic facial features, Craniofacial, Child, Genetics (clinical), Sequence Deletion, Face2Gene, Receiver operating characteristic, business.industry, Upper lip, Original Articles, facial dysmorphism, Dermatology, Phenotype, 030104 developmental biology, Biological Variation, Population, 3q29 deletion syndrome, Child, Preschool, Face, Facial pattern, Original Article, Female, Chromosomes, Human, Pair 3, business, Algorithms |
| الوصف: | 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. |
| تدمد: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.62227 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3af963c28daf331f6667dcdd7e60cffb https://doi.org/10.1002/ajmg.a.62227 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....3af963c28daf331f6667dcdd7e60cffb |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15524833 15524825 |
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| DOI: | 10.1002/ajmg.a.62227 |