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GlossaryGenetic Mutations

changes in DNA sequence that can affect traits or health

Genetic mutations are changes in the DNA sequence of an organism's genome. These alterations can occur naturally during DNA replication or be induced by environmental factors such as radiation or chemicals. While some mutations are harmless or even beneficial, others can lead to diseases or disorders, including various forms of alopecia.

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Adrenal 21-Hydroxylase Gene Mutations in Slovenian Hyperandrogenic Women: Evaluation of Corticotrophin Stimulation and HLA Polymorphisms in Screening for Carrier Status

research Adrenal 21-Hydroxylase Gene Mutations in Slovenian Hyperandrogenic Women: Evaluation of Corticotrophin Stimulation and HLA Polymorphisms in Screening for Carrier Status

19 citations, August 1999 in “European journal of endocrinology”

The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.

research Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats

75 citations, September 2007 in “Journal of Heredity”

FGF5 gene mutations cause long hair in domestic cats.

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.

research Identification of Two Additional Novel Mutations in the AR Gene Associated with Severe Forms of Androgen Insensitivity Syndrome

1 citations, September 2019 in “Steroids”

Two new mutations in the AR gene linked to severe androgen insensitivity were found.

research The Role of Mutations on Gene AR in Androgenetic Alopecia Syndrome

May 2020 in “International journal of molecular biology”

Mutations in the AR gene cause hair thinning and loss.

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 Novel and Recurrent Mutations in the AIRE Gene of Autoimmune Polyendocrinopathy Syndrome Type 1 (APS1) Patients

26 citations, September 2009 in “Clinical genetics”

Arab APS1 patients have unique and recurrent AIRE gene mutations.

research Androgen Biosynthesis and Gene Defects

November 2014 in “Elsevier eBooks”

Gene mutations can cause problems in male genital development.

Analysis of the Relationship Between the Mutation Site of the SLC39A4 Gene and Acrodermatitis Enteropathica: A Case Report and Literature Review

research Analysis of the Relationship Between the Mutation Site of the SLC39A4 Gene and Acrodermatitis Enteropathica: A Case Report and Literature Review

11 citations, January 2020 in “BMC pediatrics”

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

research CYP21A2 Mutations in Women with Polycystic Ovary Syndrome

9 citations, February 2013 in “Hormone and Metabolic Research”

Mutations in the CYP21A2 gene are not a major factor in causing PCOS.

research Topical Minoxidil Improves Congenital Hypotrichosis Caused by LIPH Mutations

7 citations, March 2015 in “British Journal of Dermatology”

Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.

research WNT10A Gene Variants at the Root of Short Anagen Hair Syndrome

1 citations, September 2023 in “British journal of dermatology/British journal of dermatology, Supplement”

WNT10A gene mutations cause short anagen hair syndrome.

research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis

May 2023 in “Pharmaceuticals”

Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.

Unexpectedly High Carrier Rates and Genotype/Phenotype Correlation: LIPH Mutations in Japanese Autosomal Recessive Woolly Hair/Hypotrichosis

research Unexpectedly High Carrier Rates and Genotype/Phenotype Correlation: LIPH Mutations in Japanese Autosomal Recessive Woolly Hair/Hypotrichosis

September 2016 in “Journal of Dermatological Science”

Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.

research STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity

65 citations, September 2014 in “Orphanet Journal of Rare Diseases”

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

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 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.

research Gain-Of-Function Variants In The ODC1 Gene Cause A Syndromic Neurodevelopmental Disorder Associated With Macrocephaly, Alopecia, Dysmorphic Features, And Neuroimaging Abnormalities

28 citations, November 2018 in “American Journal of Medical Genetics Part A”

ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.

research Detection of Five Substitution TPO Mutations in Polycystic Ovary Syndrome and Thyroid Hormones Disturbance Patients

2 citations, June 2014 in “مجلة مركز بحوث التقنيات الاحيائية”

Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.

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 Identical p53 Gene Mutation in Malignant Proliferating Trichilemmal Tumor of the Scalp and Small Cell Carcinoma of the Common Bile Duct: The Necessity for Therapeutic Caution

11 citations, May 2008 in “British journal of dermatology/British journal of dermatology, Supplement”

Identical p53 gene mutations in different cancers suggest the need for careful treatment.

research Detection of a Novel Missense Mutation in Atrichia with Papular Lesions

4 citations, January 2011 in “Annals of Dermatology”

Researchers found a new mutation in the HR gene linked to a rare hair loss condition.

research Expanding Phenotype of Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis Caused by FAM111B Mutations: Report of an Additional Family Raising the Question of Cancer Predisposition and a Short Review of Early-Onset Poikiloderma

23 citations, March 2017 in “JAAD case reports”

The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.

research Connexin 26 (GJB2) Mutations in Keratitis–Ichthyosis–Deafness Syndrome Presenting with Squamous Cell Carcinoma

11 citations, November 2011 in “The Journal of Dermatology”

Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.

Novel Adenosine Triphosphate-Binding Cassette, Subfamily A, Member 12 Mutations Associated with Congenital Ichthyosiform Erythroderma

research Novel Adenosine Triphosphate-Binding Cassette, Subfamily A, Member 12 Mutations Associated with Congenital Ichthyosiform Erythroderma

11 citations, September 2011 in “British Journal of Dermatology”

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

research Novel Biallelic RIPK4 Mutations Cause Ectodermal Dysplasia with Cutaneous Syndactyly

September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology”

New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.

research Patients with Compound Heterozygous Mutations in Forkhead Box N1 Have Severe Immunodeficiency While Maintaining Normal Skin and Hair Development

May 2017 in “The journal of immunology/The Journal of immunology”

Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.

research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome

2 citations, January 2022 in “The Application of Clinical Genetics”

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

Cutaneous Lymphadenoma Is a Distinct Trichoblastoma-like Lymphoepithelial Tumor With Diffuse Androgen Receptor Immunoreactivity, Notch1 Ligand in Reed-Sternberg-like Cells, and Common EGFR Somatic Mutations

research Cutaneous Lymphadenoma Is a Distinct Trichoblastoma-like Lymphoepithelial Tumor With Diffuse Androgen Receptor Immunoreactivity, Notch1 Ligand in Reed-Sternberg-like Cells, and Common EGFR Somatic Mutations

4 citations, May 2021 in “The American Journal of Surgical Pathology”

Cutaneous Lymphadenoma is a unique skin tumor with specific protein markers and common gene mutations that may cause continuous cell growth.

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.