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GlossaryHomozygous Mutation (Homozygous Variant)

individual has two identical copies of a mutated gene

A homozygous mutation refers to a genetic alteration where an individual has two identical copies of a mutated gene, one inherited from each parent. This can lead to the expression of certain traits or conditions, such as specific types of alopecia, if the mutation affects genes involved in hair growth and maintenance.

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research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype With Woolly Hair and Dental Anomalies

2 citations, August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.

A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family

research A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family

9 citations, March 2018 in “European journal of dermatology/EJD. European journal of dermatology”

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

research A Novel Pathogenic Variant of NECTIN4 Gene in a Child With Ectodermal Dysplasia-Syndactyly Syndrome

January 2023 in “Indian dermatology online journal”

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

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 A Novel Homozygous Variant in the DSP Gene Underlies the First Case of Non-Syndromic Form of Alopecia

2 citations, July 2015 in “Archives of Dermatological Research”

A new gene variant in the DSP gene is linked to a unique type of hair loss.

research Case Report: Bi-Allelic Missense Variant in the Desmocollin 3 Gene Causes Hypotrichosis and Recurrent Skin Vesicles

August 2022 in “Frontiers in genetics”

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

research Keratin 17-Related Recessive Atypical Pachyonychia Congenita with Variable Hair and Tooth Anomalies

3 citations, June 2022 in “European journal of human genetics”

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

Case Report: Exploring Autosomal Recessive Woolly Hair: Genetic and Scanning Electron Microscopic Perspectives on a Japanese Patient

research Case Report: Exploring Autosomal Recessive Woolly Hair: Genetic and Scanning Electron Microscopic Perspectives on a Japanese Patient

May 2024 in “Frontiers in medicine”

A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.

research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome

20 citations, February 2019 in “Genes”

The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.

research Abstracts

2 citations, January 2019 in “Medizinische Genetik”

The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.

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.

Tracing Selection Signatures in the Pig Genome Provides Evidence for Selective Pressures on a Unique Curly Hair Phenotype in Mangalitza

research Tracing Selection Signatures in the Pig Genome Provides Evidence for Selective Pressures on a Unique Curly Hair Phenotype in Mangalitza

8 citations, December 2020 in “Scientific reports”

Selective breeding caused the unique curly hair in Mangalitza pigs.

research Alymphoid Cystic Thymic Dysgenesis - FOXN1 Gene Mutation: A Rare Case Report of Two Siblings

November 2020 in “International journal of contemporary pediatrics”

Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.

research An Epistatic Effect of KRT25 on SP6 Is Involved in Curly Coat in Horses

13 citations, April 2018 in “Scientific Reports”

The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.

research Genome-Wide Detection of RNA Editing Events During the Hair Follicles Cycle of Tianzhu White Yak

October 2022 in “BMC genomics”

RNA editing significantly affects hair growth and follicle cycling in the Tianzhu white yak.

research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)

8 citations, May 2022 in “Orphanet Journal of Rare Diseases”

The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.

Novel Splice Site Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis: Case Report and Published Work Review

research Novel Splice Site Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis: Case Report and Published Work Review

9 citations, February 2018 in “The Journal of Dermatology”

A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.

research Transcriptome Analysis of Improved Wool Production in Skin-Specific Transgenic Sheep Overexpressing Ovine β-Catenin

4 citations, January 2019 in “International journal of molecular sciences”

Genetically modified sheep with more β-catenin grew more wool without changing the wool's length or thickness.

Enhancing Diagnostic Yield of Monogenic Diabetes Through Phenotypic and Molecular Reanalysis of 128 Individuals With Young Onset Hyperglycemia: Highlighting the Significance of Accurate Case Characterization

research Enhancing Diagnostic Yield of Monogenic Diabetes Through Phenotypic and Molecular Reanalysis of 128 Individuals With Young Onset Hyperglycemia: Highlighting the Significance of Accurate Case Characterization

March 2024 in “Research Square (Research Square)”

Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.

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 Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer

22 citations, August 2020 in “Cells”

TGM3 is important for skin and hair structure and may help diagnose cancer.

research TMT-Based Quantitative Proteomic Analysis Reveals the Effect of Bone Marrow Derived Mesenchymal Stem Cells on Hair Follicle Regeneration

4 citations, June 2021 in “Frontiers in Pharmacology”

Bone marrow stem cells and their medium help hair regrowth.

research The Fraser Complex Proteins Can Form Anchoring Cords Without AMACO at the Dermal-Epidermal Junction of Mouse Skin

1 citations, April 2023 in “International journal of molecular sciences”

Certain skin proteins can form anchoring structures without the protein AMACO.

research Atypical Progeroid Syndrome Due to Heterozygous Missense LMNA Mutations

115 citations, October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism”

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

research Salt-Losing Tubulopathy and Chronic Dermatitis

July 2018 in “Kidney international”

Genetic testing for EGFR mutations is crucial in similar cases.

research Siberian Cats Help in Solving Part of the Mystery Surrounding Golden Cats

7 citations, May 2021 in “Animal Genetics”

The CORIN gene variant causes the golden color in Siberian cats.

research Disease Causing Homozygous Variants in the Human Hairless Gene

7 citations, December 2015 in “International Journal of Dermatology”

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

research Homozygous Missense Mutation in the LIPH Gene Causing Autosomal Recessive Hypotrichosis Simplex in a Chinese Patient

2 citations, December 2013 in “Journal of dermatology”

A specific gene mutation causes a rare hair loss condition in a Chinese patient.

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 Exome-Wide Age-Of-Onset Analysis Reveals Exonic Variants In ERN1 And SPPL2C Associated With Alzheimer’s Disease

12 citations, February 2021 in “Translational Psychiatry”

Researchers found two new genetic variants linked to Alzheimer's disease.