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GlossaryFrameshift Mutation

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 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.

research Atrichia With Papular Lesions Resulting From a Novel Insertion Mutation in the Human Hairless Gene

19 citations, May 2006 in “Clinical and Experimental Dermatology”

Researchers found a new mutation causing total hair loss from birth.

research Case Report: Acrodermatitis Enteropathica Resulting From a Novel SLC39A4 Gene Mutation

November 2022 in “Frontiers in pediatrics”

A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.

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