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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.

A Frameshift Insertion in SGK3 Leads to Recessive Hairlessness in Scottish Deerhounds: A Candidate Gene for Human Alopecia Conditions

research A Frameshift Insertion in SGK3 Leads to Recessive Hairlessness in Scottish Deerhounds: A Candidate Gene for Human Alopecia Conditions

10 citations, March 2019 in “Human Genetics”

A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.

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

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