Case Report: The success of face analysis technology in extremely rare genetic diseases in Korea: Tatton–Brown–Rahman syndrome and Say–Barber –Biesecker–Young–Simpson variant of ohdo syndrome

Park, Sunha; Kim, Jae-Won; Song, Taeyoung; Jang, Dae-Hyun

doi:10.3389/fgene.2022.903199

Cited by 5 publications

(5 citation statements)

References 34 publications

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“…Most TBRS cases were first spotted concerning intellectual disability with or without overgrowth and distinct facial features. So far, two cases of TBRS have been reported in Korea, and they both had mild to moderate intellectual disabilities with subtle dysmorphic facial features [3,8].…”

Section: Discussionmentioning

confidence: 99%

“…Overgrowth and intellectual disability (OGID) syndrome is when additional phenotypic abnormalities, most commonly intellectual disability associated due to single-gene disorders [1,2]. Tatton-Brown-Rahman syndrome (TBRS) is a relatively new congenital overgrowth syndrome first described in 2014, with approximately 80 reported thus far, and first reported in 2018 in Korea [3]. TBRS is known to be caused by a mutation in the DNA methyltransferase 3 alpha (DNMT3A) gene inherited in an autosomal dominant manner, but mainly de novo inheritance [2,4].…”

Section: Introductionmentioning

confidence: 99%

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Tatton-Brown-Rahman Syndrome: A Report of a Case with a Novel <italic>DNMT3A</italic> Mutation Presented Hemihypertrophy

Kim¹,

Lee²

2023

Soonchunhyang Med Sci

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Tatton-Brown-Rahman syndrome (TBRS) is a relatively new congenital anomaly syndrome manifesting overgrowth and a broad spectrum of intellectual disability. It is caused by pathogenic variants in the DNA methyltransferase 3 alpha (DNMT3A) gene, mainly de novo inheritance. Overgrowth, mild-to-severe intellectual disability, and other clinical features of TBRS may affect the quality of life of patients and their family members. Thus, early diagnosis by genetic testing and management of these symptoms is critical. We report a case of a 17-year-old male patient with hemihypertrophy who suffered back pain since school age, diagnosed with TBRS-identified DNMT3A gene mutation.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Tatton-Brown-Rahman Syndrome: A Report of a Case with a Novel <italic>DNMT3A</italic> Mutation Presented Hemihypertrophy

Kim¹,

Lee²

2023

Soonchunhyang Med Sci

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“…Deep learning algorithms such as Face2gene have shown potential as a reliable and precise tool for genetic diagnosis by image recognition (Gurovich et al, 2019; Hsieh et al, 2021; Park et al, 2022; Pascolini et al, 2022). In the Colombian cohort analyzed here, Face2gene diagnosed with 100% accuracy Down syndrome, which is one of the most common and more accurately represented genetic disorder.…”

Section: Discussionmentioning

confidence: 99%

Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population

Echeverry

Candelo

Gómez

et al. 2022

Preprint

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Up to 40% of genetic and rare disorders (RD) present facial dysmorphologies. Visual assessment of facial gestalt is commonly used for clinical diagnosis, health management and treatment monitoring. Quantitative approaches to facial phenotypes are more objective and provide first diagnoses of RD with relatively high accuracy, but are mainly based on populations of European descent, disregarding the influence of population ancestry. Here we assessed the facial phenotypes associated to four genetic disorders in a Latino-American population from Colombia. We recorded the coordinates of 18 facial landmarks in 2D images from 79 controls 51 pediatric individuals diagnosed with Down (DS), Morquio (MS), Noonan (NS) and Neurofibromatosis type 1 (NF1) syndromes. We quantified facial differences using Euclidean Distance Matrix Analysis (EDMA) and assessed the diagnostic accuracy of Face2gene, an automatic deep learning algorithm with widespread use in the clinical practice.Quantitative comparisons indicated that individuals diagnosed with DS and MS were associated with the most severe phenotypes, with 58.2% and 65.4% of facial traits significantly different as compared to controls. The percentage decreased to 47.7% in NS and to 11.4% in NF1. Each syndrome presented a characteristic pattern of facial dysmorphology, supporting the potential of facial biomarkers for disorder diagnosis. However, our results detected population-specific traits in the Colombian population as compared to the facial gestalt described in literature for DS, NS and NF1. When clinical diagnosis based on genetic testing was used to verify the diagnosis based on 2D facial pictures, our results showed that Face2Gene accuracy was very high in DS, moderate in NS and NF1, and very low in MS, with low gestalt similarity scores in highly admixed individuals. Our study underscores the added value of precise quantitative comparison of facial dysmorphologies in genetic and rare disorders and the need to incorporate populations with diverse contributions of Amerindian, African and European ancestry components to further improve automatic diagnostic methods.

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“…Variable accuracy diagnosis in a Colombian population with diverse ancestry. Deep learning algorithms such as Face2Gene have shown potential as a reliable and precise tool for genetic diagnosis by image recognition 9,26,80,81 . In the Colombian sample analyzed here, Face2Gene diagnosed Down syndrome with 100% accuracy, with the same accuracy as in the European sample.…”

Section: Population-specific Facial Traits In Colombian Individuals W...mentioning

confidence: 99%

Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population

Echeverry-Quiceno¹,

Candelo²,

Gómez³

et al. 2023

Sci Rep

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Up to 40% of rare disorders (RD) present facial dysmorphologies, and visual assessment is commonly used for clinical diagnosis. Quantitative approaches are more objective, but mostly rely on European descent populations, disregarding diverse population ancestry. Here, we assessed the facial phenotypes of Down (DS), Morquio (MS), Noonan (NS) and Neurofibromatosis type 1 (NF1) syndromes in a Latino-American population, recording the coordinates of 18 landmarks in 2D images from 79 controls and 51 patients. We quantified facial differences using Euclidean Distance Matrix Analysis, and assessed the diagnostic accuracy of Face2Gene, an automatic deep-learning algorithm. Individuals diagnosed with DS and MS presented severe phenotypes, with 58.2% and 65.4% of significantly different facial traits. The phenotype was milder in NS (47.7%) and non-significant in NF1 (11.4%). Each syndrome presented a characteristic dysmorphology pattern, supporting the diagnostic potential of facial biomarkers. However, population-specific traits were detected in the Colombian population. Diagnostic accuracy was 100% in DS, moderate in NS (66.7%) but lower in comparison to a European population (100%), and below 10% in MS and NF1. Moreover, admixed individuals showed lower facial gestalt similarities. Our results underscore that incorporating populations with Amerindian, African and European ancestry is crucial to improve diagnostic methods of rare disorders.

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Case Report: The success of face analysis technology in extremely rare genetic diseases in Korea: Tatton–Brown–Rahman syndrome and Say–Barber –Biesecker–Young–Simpson variant of ohdo syndrome

Cited by 5 publications

References 34 publications

Tatton-Brown-Rahman Syndrome: A Report of a Case with a Novel <italic>DNMT3A</italic> Mutation Presented Hemihypertrophy

Tatton-Brown-Rahman Syndrome: A Report of a Case with a Novel <italic>DNMT3A</italic> Mutation Presented Hemihypertrophy

Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population

Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population

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