ArticleAmerican journal of medical genetics. Part A2021
Craniofacial features of 3q29 deletion syndrome: Application of next-generation phenotyping technology.
Article in American journal of medical genetics. Part A, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.American journal of human genetics · 2025Article
- Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single-Gene BDH1 Duplications.Molecular genetics & genomic medicine · 2025Review
- Loss-of-function of the Zinc Finger Homeobox 4 (medRxiv : the preprint server for health sciences · 2024Article
- Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study.Journal of medical Internet research · 2024Article
- Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.American journal of human genetics · 2024Article
- Facial clues to the photosensitive trichothiodystrophy phenotype in childhood.Journal of human genetics · 2023Article
- Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review.American journal of medical genetics. Part A · 2023Review
- 17q12 deletion syndrome mouse model shows defects in craniofacial, brain and kidney development, and glucose homeostasis.Disease models & mechanisms · 2022Article
- Craniofacial features of 3q29 deletion syndrome: Application of next-generation phenotyping technology.American journal of medical genetics. Part A · 2021Article
- Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
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9 authors.
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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.
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