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GlossaryMutation

A mutation is a change in the DNA sequence of an organism that can lead to alterations in gene function and expression. In the context of hair loss, certain mutations can affect the genes responsible for hair follicle development, growth cycles, and overall hair health, potentially leading to conditions such as androgenetic alopecia or alopecia areata. Key distinguishing characteristics of mutations include their ability to be inherited or acquired, and their potential to either have no effect, be beneficial, or cause detrimental changes in hair biology.

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research Intermolecular NH2-/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity

227 citations , January 1998 in “Journal of biological chemistry/The Journal of biological chemistry”

Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.

research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix

175 citations , August 1997 in “Nature Genetics”

research Cantú Syndrome Is Caused by Mutations in ABCC9

148 citations , May 2012 in “The American Journal of Human Genetics”

Cantú syndrome is caused by mutations in the ABCC9 gene.

research Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene

139 citations , September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology”

Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.

research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

119 citations , November 2016 in “American journal of human genetics”

Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.

research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome

112 citations , August 2012 in “The American Journal of Human Genetics”

Mutations in the RBPJ gene cause Adams-Oliver Syndrome.

research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets

107 citations , March 2014 in “BoneKEy Reports”

Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.

research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria

99 citations , March 2013 in “Journal of Investigative Dermatology”

Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.

research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing

99 citations , October 2008 in “Journal of Investigative Dermatology”

Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.

research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis

97 citations , March 2006 in “Journal of Investigative Dermatology”

Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.

A Novel Point Mutation in the Ligand-Binding Domain of the Human Glucocorticoid Receptor Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus in Conferring Transactivational Activity

research A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity

91 citations , May 2005 in “The Journal of Clinical Endocrinology & Metabolism”

A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.

research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

87 citations , March 2017 in “Journal of Clinical Investigation”

PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.

research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions

81 citations , March 2006 in “Journal of Investigative Dermatology”

Mutations in the DSG4 gene cause specific hair and scalp issues.

research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia

74 citations , October 2012 in “The American Journal of Human Genetics”

Mutations in the HOXC13 gene cause hair and nail development issues.

research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis

74 citations , January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology”

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

research Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses

73 citations , December 2015 in “Nature Genetics”

Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.

research Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome

62 citations , March 2017 in “Journal of Investigative Dermatology”

Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.

research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

55 citations , November 2018 in “American journal of human genetics”

Mutations in the LSS gene cause a rare type of hereditary hair loss.

research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex

44 citations , January 2017 in “Journal of Investigative Dermatology”

Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.

research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis

43 citations , September 2001 in “Annals of Neurology”

Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.

research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia

42 citations , October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology”

Mutations in the KRT85 gene cause hair and nail problems.

research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

39 citations , December 2012 in “The American Journal of Human Genetics”

Mutations in the SNRPE gene cause hereditary hair loss.

research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

34 citations , July 2020 in “American journal of human genetics”

Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.

research Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology

33 citations , February 2012 in “British Journal of Dermatology”

Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.

Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements

30 citations , June 2016 in “Journal of Human Genetics”

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

research Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament

27 citations , November 2007 in “Genomics”

Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.

research Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets

24 citations , November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia”

Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.