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Glossary Genetic 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”

This study found that CYP21A2 gene mutations are the most common cause of non-classic congenital adrenal hyperplasia, while CYP11B1 mutations are rare and may partially impair enzyme activity.

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.

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)”

In this case study, researchers documented a Chinese boy with hair color changing to red and identified MC1R genetic mutations as the cause, rather than zinc deficiency, enhancing our understanding of hair heterochromia due to genetic factors.

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”

In this case report, complete hair regrowth was observed in a patient with autoimmune-related alopecia areata after treatment with a Janus kinase inhibitor, suggesting its potential effectiveness for both genetic and sporadic forms of the condition.

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”

This study details a case of a 20-year-old woman with APECED syndrome and alopecia areata who experienced complete scalp hair regrowth and improved quality of life after nine months of ruxolitinib treatment, highlighting the drug's effectiveness for severe AA linked to AIRE gene mutation.

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”

In this study, the CYP 21A2 gene p.V281L mutation was associated with an increased susceptibility to familial frontal fibrosing alopecia, suggesting an antigen-driven mechanism linked to certain human leukocyte antigen haplotypes.

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”

This case report presents the first genetically confirmed case of acrodermatitis enteropathica in Korea, identifying compound heterozygous mutations in the SLC39A4 gene in an 8-month-old boy.

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”

This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.

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”

This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.

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”

This review discusses managing prostate cancer in patients with high-risk germline mutations and highlights the need for more research and consensus guidelines, reporting no new clinical results.

research BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations

July 2021 in “British Journal of Dermatology”

This report describes a boy with ectodermal dysplasias who was genetically diagnosed due to newly discovered TSPEAR gene variants, which have now been associated with this condition.

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 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”

This study investigated genetic and phenotypic characteristics of androgen insensitivity syndrome in individuals with a 46,XY karyotype, documenting a range from complete to partial insensitivity.

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

194 citations , November 2006 in “Science”

This study identified a gene mutation in the LIPH gene associated with inherited hair loss and hair growth defects in certain populations, suggesting lipase H plays a role in hair development.

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

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

This collection reviews various animal models for dermatological research, particularly focusing on genetic mutations in laboratory mice, and reports no original findings.

research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients

43 citations , April 2010 in “Clinical genetics”

This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.

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”

The researchers identified a specific mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis, which presents with variable hair loss severity in affected individuals from a large Pakistani family.

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”

This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.

research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance

15 citations , June 2012 in “British Journal of Dermatology”

This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.

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 by reporting a rare Chinese twin: a case report and review of the literature

11 citations , January 2020 in “BMC pediatrics”

This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.

research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation

9 citations , June 2017 in “American journal of ophthalmology. Case reports”

This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.

research Molecular Genetics of Alopecias

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

This review highlights recent genetic research advancements in understanding hereditary hair diseases but reports no new study results, emphasizing the identification of genes related to both monogenic and polygenic hair disorders.

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”

This study found that a specific genetic mutation in the Fgf5 gene may contribute to the long-hair trait in Angora rabbits by reducing the binding capacity of the FGF5 protein.

research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families

3 citations , February 2020 in “The journal of gene medicine”

This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.

research Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis

3 citations , March 2019 in “European Journal of Dermatology”

A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.

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.

research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report

May 2025 in “Dermatology Reports”

In this case study from King Fahad University Hospital, an 11-month-old Saudi boy with a history of short, non-growing hair was diagnosed with autosomal recessive woolly hair/hypotrichosis, attributed to a homozygous mutation in the LIPH gene.