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Genet Med. 2018 Dec 20. doi: 10.1038/s41436-018-0404-y. [Epub ahead of print]

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.

Author information

1
Princess Máxima Center for Pediatric Oncology, Bilthoven, The Netherlands.
2
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
3
Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, UK.
4
Institute of Biomedical Engineering, Department of Engineering Science, University of Oxford, Oxford, UK.
5
Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.
6
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Bert.deVries@radboudumc.nl.
7
Princess Máxima Center for Pediatric Oncology, Bilthoven, The Netherlands. J.Y.HehirKwa@prinsesmaximacentrum.nl.

Abstract

PURPOSE:

The interpretation of genetic variants after genome-wide analysis is complex in heterogeneous disorders such as intellectual disability (ID). We investigate whether algorithms can be used to detect if a facial gestalt is present for three novel ID syndromes and if these techniques can help interpret variants of uncertain significance.

METHODS:

Facial features were extracted from photos of ID patients harboring a pathogenic variant in three novel ID genes (PACS1, PPM1D, and PHIP) using algorithms that model human facial dysmorphism, and facial recognition. The resulting features were combined into a hybrid model to compare the three cohorts against a background ID population.

RESULTS:

We validated our model using images from 71 individuals with Koolen-de Vries syndrome, and then show that facial gestalts are present for individuals with a pathogenic variant in PACS1 (p = 8 × 10-4), PPM1D (p = 4.65 × 10-2), and PHIP (p = 6.3 × 10-3). Moreover, two individuals with a de novo missense variant of uncertain significance in PHIP have significant similarity to the expected facial phenotype of PHIP patients (p < 1.52 × 10-2).

CONCLUSION:

Our results show that analysis of facial photos can be used to detect previously unknown facial gestalts for novel ID syndromes, which will facilitate both clinical and molecular diagnosis of rare and novel syndromes.

KEYWORDS:

facial image processing; facial phenotyping; phenotyping

PMID:
30568311
DOI:
10.1038/s41436-018-0404-y

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