Publications by authors named "R A Spritz"
Human craniofacial shape is highly variable yet highly heritable with numerous genetic variants interacting through multiple layers of development. Here, we hypothesize that Mendelian phenotypes represent the extremes of a phenotypic spectrum and, using achondroplasia as an example, we introduce a syndrome-informed phenotyping approach to identify genomic loci associated with achondroplasia-like facial variation in the general population. We compare three-dimensional facial scans from 43 individuals with achondroplasia and 8246 controls to calculate achondroplasia-like facial scores.
View Article and Find Full Text PDFHuman facial shape, while strongly heritable, involves both genetic and structural complexity, necessitating precise phenotyping for accurate assessment. Common phenotyping strategies include simplifying 3D facial features into univariate traits such as anthropometric measurements (e.g.
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- * Researchers found that higher genetic risk for vitiligo is linked to an earlier age of onset, but this relationship is complicated by specific genetic variations.
- * While genetics play a significant role in vitiligo's development, environmental factors are also crucial, indicating that it's not a condition present at birth.
Article Synopsis
- Human facial shape is influenced by both genetics and complex structural factors, requiring detailed analysis or "phenotyping" to understand its variations.
- Common methods for phenotyping include anthropometric measurements, dimensionality reductions like PCA and AE, and assessments of facial resemblance to specific archetypes, especially in genome-wide studies.
- The study found that inter-landmark distances show the highest genetic heritability, while facial resemblance scores have the lowest, indicating that different approaches provide distinct insights into the genetic basis of facial traits.
Craniofacial phenotyping is critical for both syndrome delineation and diagnosis because craniofacial abnormalities occur in 30% of characterized genetic syndromes. Clinical reports, textbooks, and available software tools typically provide two-dimensional, static images and illustrations of the characteristic phenotypes of genetic syndromes. In this work, we provide an interactive web application that provides three-dimensional, dynamic visualizations for the characteristic craniofacial effects of 95 syndromes.
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