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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...
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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.
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Genetic short stature.

Michelle Grunauer1, Alexander A L Jorge2

  • 1Pediatric Intensive Care Unit, Hospital de los Valles, Escuela de Medicina, Universidad San Francisco de Quito (USFQ), Quito, Ecuador.

Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society
|December 19, 2017
PubMed
Summary
This summary is machine-generated.

Genetic factors significantly influence adult height, with rare variants increasingly identified as causes of short stature. Future genetic discoveries promise to improve diagnosis and treatment for children with growth disorders.

Keywords:
Adult heightGeneticShort statureSkeletal dysplasiaSyndrome

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Area of Science:

  • Human Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Adult height is primarily determined by genetic factors, with heritability exceeding 80% in twin studies.
  • Short stature, defined as height below 2 standard deviations from the mean, affects approximately 2.3% of the population.
  • Genetic influences on height range from polygenic/oligogenic common variants with small effects to rare variants with larger impacts.

Purpose of the Study:

  • To explore the genetic underpinnings of short stature.
  • To highlight the role of both common and rare genetic variants in determining height.
  • To anticipate future genetic discoveries and their clinical implications for growth disorders.

Main Methods:

  • Review of twin studies on height heritability.
  • Analysis of genetic variant effects on stature variation.
  • Examination of genetic causes for syndromic and non-syndromic short stature.

Main Results:

  • Common genetic variants typically contribute minimally (e.g., 1mm) to individual height differences.
  • Rare genetic variants can significantly impact height, even in non-syndromic cases.
  • Extreme short stature (below -2.5 or -3 SDS) is often linked to monogenic defects and syndromic conditions.

Conclusions:

  • Genetic variation is the primary driver of stature, with a spectrum of genetic influences from common to rare variants.
  • Understanding rare variants is crucial for diagnosing unexplained short stature.
  • Advancements in genetic discovery will revolutionize the management and treatment of growth disorders in children.