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Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Viral Mutations

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...

Introduction to Developmental Psychology

Introduction to Developmental Psychology

Developmental psychology explores the changes and continuities in human abilities throughout life, encompassing physical, cognitive, linguistic, and social dimensions. Human development is not restricted to growth, but includes aspects of decline, particularly in physical abilities as individuals age. Developmental psychologists seek to understand how people change as they age and how their mental and social skills evolve.Developmental MilestonesA key concept in developmental psychology is...

Three Developmental Domains

Three Developmental Domains

Human development is typically examined across three main domains: physical, cognitive, and socio-emotional. These domains represent the significant areas of change and continuity throughout the lifespan, from infancy to late adulthood.
Physical Development
Physical processes, also known as maturation, encompass the biological changes that occur across an individual's life. These changes begin with genetic inheritance and continue through various stages, including growth in height and weight,...

Mutation, Gene Flow, and Genetic Drift

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).

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Updated: Feb 4, 2026

Measuring Delay Discounting in Humans Using an Adjusting Amount Task

Measuring Delay Discounting in Humans Using an Adjusting Amount Task

Published on: January 9, 2016

QRICH1 mutations cause a chondrodysplasia with developmental delay.

Julian C Lui¹, Youn Hee Jee¹, Audrey Lee¹

¹Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

Clinical Genetics

|October 4, 2018

Summary

Genetic mutations in QRICH1 cause developmental delay and short stature. This research identifies QRICH1 as a key gene in growth plate development, impacting linear growth in children.

Keywords:

chondrogenesis growth short stature

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Last Updated: Feb 4, 2026

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Area of Science:

Genetics
Pediatrics
Developmental Biology

Background:

The cause of short stature in children is often unknown.
Genetic factors are implicated in growth disorders.

Purpose of the Study:

To identify the genetic cause of short stature, developmental delay, and dysmorphic features.
To investigate the role of QRICH1 in skeletal development.

Main Methods:

Exome sequencing to identify genetic mutations.
In vitro studies using cell cultures (epiphyseal chondrocytes).
siRNA-mediated knockdown to assess gene function.

Main Results:

A de novo nonsense mutation in QRICH1 (c.1606C>T:p.R536X) was identified in a patient with short stature and developmental delay.
The mutation impaired QRICH1 protein expression and led to downregulation of genes for chondrocyte hypertrophy.
A second unrelated individual with a similar phenotype and another de novo QRICH1 mutation was found.

Conclusions:

Mutations in QRICH1 cause a chondrodysplasia leading to short stature and abnormal growth plates.
Impaired hypertrophic differentiation of growth plate chondrocytes is a mechanism for QRICH1-related growth impairment.
QRICH1 is crucial for normal linear growth and skeletal development.