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Related Concept Videos

Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Nature and Nurture01:10

Nature and Nurture

Many human characteristics, like height, are shaped by both nature—in other words, by our genes—and by nurture, or our environment. For example, chronic stress during childhood inhibits the production of growth hormones and consequently reduces bone growth and height. Scientists estimate that 70-90% of variation in height is due to genetic differences among individuals, and 10-30% of variation in height is due to differences in the environments that individuals experience, such as differences...
Genetic Screens02:46

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Gene-Environment Interactions01:20

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Gene expression is a dynamic process that is significantly influenced by environmental factors. This interaction underlies the complex nature of biological development and the phenotypic differences observed among individuals, even among those with identical genetic makeups. Factors such as radiation, temperature, behavior, nutrition, and stress play pivotal roles in determining how genes are expressed. The concept of the reaction range is central to understanding this interaction. It posits...
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Using RNA-mediated Interference Feeding Strategy to Screen for Genes Involved in Body Size Regulation in the Nematode C. elegans
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Genetic evaluation of short stature.

J M Wit1, W Kiess, P Mullis

  • 1Department of Paediatrics, J6S Leiden University Medical Center, Leiden, The Netherlands. j.m.wit@lumc.nl

Best Practice & Research. Clinical Endocrinology & Metabolism
|March 15, 2011
PubMed
Summary

Genetic testing aids in diagnosing short stature by identifying specific gene defects. Algorithms guide clinicians in selecting appropriate genetic tests for growth hormone deficiency and related conditions.

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Area of Science:

  • Pediatric Endocrinology
  • Human Genetics
  • Molecular Diagnostics

Background:

  • Short stature in children necessitates a comprehensive diagnostic approach.
  • Genetic factors play a crucial role in various growth disorders.
  • Accurate diagnosis is essential for timely and effective treatment.

Purpose of the Study:

  • To propose clinical algorithms for diagnosing short stature based on genetic testing.
  • To outline specific genetic tests for conditions like growth hormone deficiency and resistance.
  • To provide a framework for utilizing genetic analysis in pediatric growth assessment.

Main Methods:

  • Clinical evaluation including medical history, growth analysis, and physical examination.
  • Radiological and laboratory screening to identify potential causes of short stature.
  • Targeted gene testing (e.g., GH1, GHRHR, PROP1, POU1F1, GHR, STAT5B, IGF1, IGFALS, IGF1R) and whole genome approaches.

Main Results:

  • Specific gene defects are associated with isolated growth hormone deficiency (GH1, GHRHR) and multiple pituitary hormone deficiencies (PROP1, POU1F1).
  • Genetic defects in GHR, STAT5B, IGF1, and IGFALS are linked to growth hormone resistance.
  • Heterozygous defects in IGF1R cause Insulin-like Growth Factor-I (IGF-I) resistance.
  • Dysmorphic syndromes and whole genome analysis are considered for complex cases.

Conclusions:

  • Clinical algorithms integrating genetic testing can effectively diagnose the genetic basis of short stature.
  • Tailored genetic investigations are crucial for identifying specific deficiencies and resistance syndromes.
  • Advanced genomic approaches offer solutions when candidate gene testing is inconclusive.