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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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research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation

April 2016 in “Hormones”

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

research Zinc deficiency or genetic mutations?—A case report of hair heterochromia in the context of MC1R genetic mutations

January 2024 in “Australasian journal of dermatology (Print)”

A boy's hair turned red because of genetic mutations, not lack of zinc.

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 A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu

18 citations , February 2006 in “Genomics”

A new genetic mutation in mice causes permanent hair loss and skin wrinkling.

Study of Human Leukocyte Antigen in 13 Cases of Familial Frontal Fibrosing Alopecia: CYP21A2 Gene p.V281L Mutation from Congenital Adrenal Hyperplasia Linked to HLA Class I Haplotype HLA-A*33:01; B*14:02; C*08:02 as a Genetic Marker

research Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A33:01 ; B14:02; C*08:02 as a genetic marker

7 citations , January 2019 in “Australasian Journal of Dermatology”

A genetic marker linked to a type of hair loss was found in most patients studied.

research Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with AIRE gene mutation (autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy, APECED syndrome) treated with ruxolitinib

January 2026 in “Clinical and Experimental Dermatology”

Ruxolitinib helped a patient with alopecia areata regrow hair.

research BH02 Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with the AIRE gene mutation treated with ruxolitinib

June 2025 in “British Journal of Dermatology”

Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.

research Congenital Zinc Deficiency from Mutations of theSLC39A4Gene as the Genetic Background of Acrodermatitis Enteropathica

16 citations , January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science”

A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.

research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation

15 citations , June 2019 in “Biochemical Journal”

A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.

research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.

September 1997 in “Clinical and Experimental Dermatology”

research Short anagen hair syndrome is caused by mutations in the WNT10A gene and has a genetic overlap with male pattern hair loss

November 2023 in “British Journal of Dermatology”

Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.

research Clinical Management of Prostate Cancer in High-Risk Genetic Mutation Carriers

10 citations , February 2022 in “Cancers”

More research and guidelines are needed for managing prostate cancer in people with high-risk genetic mutations.

research Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene

174 citations , July 2003 in “The Journal of Clinical Endocrinology & Metabolism”

Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.

research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb

5 citations , June 2008 in “British Journal of Dermatology”

research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH

194 citations , November 2006 in “Science”

A genetic mutation in the LIPH gene causes hair loss and growth defects.

research Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools

135 citations , May 1994 in “Medical Entomology and Zoology”

Mouse models help study genetic skin diseases.

research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients

43 citations , April 2010 in “Clinical genetics”

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

research The Genetics of Human Skin Disease

24 citations , October 2014 in “Cold Spring Harbor Perspectives in Medicine”

Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.

research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis

18 citations , January 2020 in “Acta dermato-venereologica”

Over 67 genes linked to ichthyosis help improve diagnosis and treatment.

research Molecular Genetics of Alopecias

9 citations , January 2015 in “Current problems in dermatology”

Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.

research A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits

5 citations , June 2023 in “BMC genomics”

A specific gene mutation causes long hair in Angora rabbits.

research Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study

4 citations , October 2023 in “African Journal of Urology”

Older parental age, rural living, and specific genetic mutations increase hypospadias risk in children.

research Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities

3 citations , September 2017 in “Archives of dermatological research”

Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.

Mutational Spectrum of EDA, EDAR, EDARADD, and WNT10A Genes in the Largest Cohort of Russian Patients With Hypohidrotic Ectodermal Dysplasia

research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia

February 2026 in “Orphanet Journal of Rare Diseases”

Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.

Case of Autosomal Recessive Woolly Hair/Hypotrichosis with Compound Heterozygous Mutations in the LIPH Gene at c.742C > A and c.614A > G: The First Japanese Case

research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case

February 2023 in “Journal of dermatology”

The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.

research Mutation analysis of the typeIIhair keratin gene in a family of Han nationality with monilethrix

August 2019

A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.

research Molecular genetics of androgen insensitivity

January 1995 in “Adolescent and pediatric gynecology”

Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.

Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

research Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

181 citations , January 2009 in “Nature Genetics”

Certain mutations in a hair growth-related gene cause a type of genetic hair loss.

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 Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia

66 citations , December 1999 in “Journal of Investigative Dermatology”

New mutations in the hairless gene may cause hair loss and affect bone development.