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GlossaryFrameshift Mutation (Frameshift)

insertion or deletion of nucleotides shifts DNA reading frame

A frameshift mutation is a type of genetic mutation where the insertion or deletion of a number of nucleotides in DNA that is not divisible by three shifts the reading frame of the genetic code. This alteration can lead to the production of completely different proteins, often resulting in nonfunctional proteins, which can cause various genetic disorders and diseases.

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research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability Within a Pakistani Family

25 citations, March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology”

A specific gene mutation causes varying hair loss severity in a Pakistani family.

research A New Heterozygous Frameshift Variant in Keratin 10 Resulting in Ichthyosis Hystrix in a Father and Daughter

March 2023 in “JAAD case reports”

A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.

research Independent DSG4 Frameshift Variants in Cats with Hair Shaft Dystrophy

December 2021 in “Molecular genetics and genomics”

Cats with abnormal hair had DSG4 gene changes causing hair problems.

research Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I

January 2013 in “International Journal of Trichology”

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

research A Frameshift Mutation in the TRPS1 Gene Showing a Mild Phenotype of Trichorhinophalangeal Syndrome Type 1

1 citations, December 2018 in “Journal of genetic medicine”

A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

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