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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.

research Analysis of the Hybrid Schwannoma and Neurofibroma Including a Case Report of Schwannomatosis Caused by a Mutation in the LZTR1 Gene

November 2022 in “Journal of Investigative Dermatology”

Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.

research A Syndromic Extreme Insulin Resistance Caused by Biallelic POC1A Mutations in Exon 10

7 citations, August 2017 in “European journal of endocrinology”

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II

18 citations, November 2009 in “Calcified tissue international”

A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

research A Novel Mutation in the FERMT1 Gene in a Spanish Family with Kindler’s Syndrome

8 citations, December 2009 in “Journal of The European Academy of Dermatology and Venereology”

Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.

A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia

research A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia

17 citations, August 2012 in “Journal of Medical Genetics”

A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.

Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene

research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene

3 citations, December 2021 in “Frontiers in endocrinology”

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

Identification of a Novel Homozygous LAMB3 Mutation in a Chinese Male With Junctional Epidermolysis Bullosa and Severe Urethra Stenosis: A Case Report

research Identification of a Novel Homozygous LAMB3 Mutation in a Chinese Male With Junctional Epidermolysis Bullosa and Severe Urethra Stenosis: A Case Report

September 2022 in “Frontiers in genetics”

A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.

research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10

22 citations, September 2014 in “JAMA dermatology”

Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.

research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan

August 2020 in “Pakistan Journal of Zoology”

A new mutation in the Hairless gene causes hair loss in two Pakistani families.

research Severe Metabolic Disorders Coexisting With Werner Syndrome: A Case Report

6 citations, October 2020 in “Endocrine journal”

A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.

research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle

2 citations, July 2021 in “Genes”

A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.

research Hypoparathyroidism as the Single Major Component for Decades of Autoimmune Polyglandular Syndrome Type 1

2 citations, December 2020 in “Endocrinology, diabetes & metabolism case reports”

A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.

Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency

research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency

81 citations, July 2008 in “The Journal of Clinical Endocrinology and Metabolism”

Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.

research Tumor Mapping in Two Large Multigenerational Families With CYLD Mutations

44 citations, November 2009 in “Archives of Dermatology”

CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.

Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review

research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review

March 2024 in “Frontiers in endocrinology”

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

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 Androgenetic Alopecia in Heterozygous Carriers of a Mutation in the Human Hairless Gene

9 citations, June 2000 in “Journal of The American Academy of Dermatology”

Mutation in hairless gene may increase hair loss risk.

research Androgenetic Alopecia in Heterozygous Carriers of a Mutation in the Human Hairless Gene

2 citations, June 2000 in “Journal of The American Academy of Dermatology”

Mutation in hairless gene may increase hair loss risk.

Analysis of Hidradenitis Suppurativa-Linked Mutations in Four Genes and the Effects of PSEN1-P242LfsX11 on Cytokine and Chemokine Expression in Macrophages

research Analysis of Hidradenitis Suppurativa-Linked Mutations in Four Genes and the Effects of PSEN1-P242LfsX11 on Cytokine and Chemokine Expression in Macrophages

25 citations, December 2018 in “Human Molecular Genetics”

The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.

research Signal Transducer and Activator of Transcription 5B Deficiency Due to a Novel Missense Mutation in the Coiled-Coil Domain

14 citations, September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology”

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

research Novel PAX9 Mutation Associated with Syndromic Tooth Agenesis

20 citations, July 2013 in “European Journal of Oral Sciences”

A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.

research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy

19 citations, May 2004 in “The American Journal of Dermatopathology”

The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.

research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2

98 citations, March 2019 in “Frontiers in immunology”

Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.

research A Novel Mutation in ST14 at a Functionally Significant Amino Acid Residue Expands the Spectrum of Ichthyosis-Hypotrichosis Syndrome

11 citations, December 2017 in “Orphanet Journal of Rare Diseases”

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia

2 citations, May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology”

A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.