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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...

Mutations

Mutations

Mutations in Microorganisms

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...

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Related Experiment Video

Updated: May 28, 2026

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells

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CBG Santiago: a novel CBG mutation.

D J Torpy¹, B Ardesjö Lundgren, J T Ho

¹Endocrine and Metabolic Unit, Royal Adelaide Hospital, North Terrace, Adelaide 5000, South Australia, Australia. David.Torpy@health.sa.gov.au

The Journal of Clinical Endocrinology and Metabolism

|October 21, 2011

Summary

A novel mutation in the Corticosteroid-binding globulin (CBG; SERPIN A6) gene was identified in a family with fatigue and low cortisol. This discovery highlights potential misdiagnoses and links CBG variations to stress system function.

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Last Updated: May 28, 2026

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Published on: March 10, 2023

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Area of Science:

Endocrinology
Human Genetics

Background:

Corticosteroid-binding globulin (CBG; SERPIN A6) gene mutations are rare, with only four previously described.
These mutations are often associated with fatigue and chronic pain, though penetrance is incomplete.

Observation:

A kindred presented with a novel SERPINA6 mutation in a 9-year-old male experiencing excessive postexertional fatigue, weakness, and migraine.
Investigations revealed low morning and ACTH-stimulated peak cortisol levels.

Findings:

A novel exon 2 single base deletion (c.13delC) in SERPIN A6 was detected, causing a frameshift and premature stop codon.
This mutation resulted in 50% reduced CBG levels in heterozygotes and was shared by the patient's father and two sisters.
Symptom variability may be influenced by a polymorphic CBG allele (c.735G>T).

Implications:

This represents the fifth identified human CBG gene mutation and the second significantly impacting CBG levels.
Individuals with low CBG may be misdiagnosed with secondary hypocortisolism.
The association with fatigue and pain suggests a link to altered stress system function, with phenotype variability possibly due to other genetic or environmental factors.