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Apart from the measures of central tendency, distribution, outliers, and the changing characteristics of data with time, an important characteristic of any data set is its variation or spread. In some data sets, the data values are concentrated closely near the mean; in others, the data values are more widely spread out from the mean.
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Phenotypic expansion illuminates multilocus pathogenic variation.

Ender Karaca1, Jennifer E Posey2, Zeynep Coban Akdemir1

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|May 24, 2018
PubMed
Summary

Multilocus variation, involving multiple disease genes, explains expanded phenotypes in genetic disorders. This finding highlights the importance of considering multiple genetic factors for complex and variable clinical presentations.

Keywords:
distinct/overlapping blended phenotypesmultilocus variationneurodevelopmental disorderpersonal genomesphenotypic expansion of Mendelizing disease traits

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Area of Science:

  • Genetics
  • Genomic Medicine
  • Clinical Diagnostics

Background:

  • Phenotypic expansion, where clinical features exceed those of a known disease gene, poses diagnostic challenges.
  • Attributing expanded phenotypes solely to single-gene variations may overlook complex genetic etiologies.

Purpose of the Study:

  • To investigate whether multilocus variation (pathogenic variants in multiple genes) underlies apparent phenotypic expansion.
  • To reanalyze whole-exome sequencing data for patients with unexplained expanded phenotypes.

Main Methods:

  • Retrospective computational reanalysis of whole-exome sequencing data from 106 patients.
  • Focused analysis on 19 patients with previously attributed phenotypic expansion.
  • Utilized stringent Variant Call File filtering criteria.

Main Results:

  • Multilocus variation was identified in 31.6% of families with phenotypic expansion, compared to 2.3% without.
  • Intrafamilial clinical variability was explained by multilocus variation in two families, affecting the more severely affected sibling.
  • Identified multiple rare variants at different loci contributing to genetic and clinical heterogeneity.

Conclusions:

  • Multilocus variation is a significant factor in the etiology of genetically and clinically heterogeneous conditions.
  • Apparent phenotypic expansion can result from blended phenotypes due to pathogenic variation at multiple loci.
  • Clinician involvement is critical for interpreting complex genomic data and diagnosing blended phenotypes.