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GlossaryHomozygous

having two identical alleles for a specific gene

Homozygous refers to having two identical alleles for a particular gene. In simpler terms, if you inherit the same version of a gene from both your mother and your father, you are homozygous for that gene. This can influence traits such as hair color or susceptibility to certain conditions like alopecia. For example, if both alleles for a gene related to hair growth are the same, it can determine whether you have a full head of hair or are more prone to hair loss.

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research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction

16 citations, September 2015 in “International Journal of Molecular Sciences”

A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.

research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy

15 citations, November 2012 in “Archives of Ophthalmology”

A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis

8 citations, June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology”

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

research Homozygous Whole Body Cbs Knockout in Adult Mice Features Minimal Pathology During Aging Despite Severe Homocysteinemia

7 citations, March 2022 in “The FASEB journal”

Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.

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 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 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.

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 Single T Deletion Found in the GGCX Gene with PXE-Like Phenotypes

September 2016 in “Journal of Dermatological Science”

A gene mutation worsens skin irritation in mice due to a lack of certain fats.

research A Novel PLEC Nonsense Homozygous Mutation (c.7159G > T; p.Glu2387*) Causes Epidermolysis Bullosa Simplex with Muscular Dystrophy and Diffuse Alopecia: A Case Report

18 citations, January 2018 in “BMC dermatology”

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

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.

Identification of a Novel Homozygous LAMB3 Mutation in a Chinese Male With Junctional Epidermolysis Bullosa and Severe Urethra Stenosis: A Case Report

research Identification of a Novel Homozygous LAMB3 Mutation in a Chinese Male With Junctional Epidermolysis Bullosa and Severe Urethra Stenosis: A Case Report

September 2022 in “Frontiers in genetics”

A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.

research Cutaneous Xanthomas in Homozygous Familial Hypercholesterolemia: A 12-Year Follow-Up

April 2016 in “Journal of The American Academy of Dermatology”

Women with PCOS often have hirsutism and skin changes, which indicate a need for metabolic health checks.

research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene

94 citations, April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism”

A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.

research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding Locus

38 citations, September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology”

A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.

Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy Due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First Year

research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy Due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First Year

1 citations, June 2022 in “JCRPE”

Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.

Identification of Factors Contributing to Phenotypic Divergence via Quantitative Image Analyses of Autosomal Recessive Woolly Hair/Hypotrichosis with Homozygous c.736T>A LIPH Mutation

research Identification of Factors Contributing to Phenotypic Divergence via Quantitative Image Analyses of Autosomal Recessive Woolly Hair/Hypotrichosis with Homozygous c.736T>A LIPH Mutation

12 citations, July 2016 in “British journal of dermatology/British journal of dermatology, Supplement”

Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.

Epidermolysis Bullosa Pruriginosa, Muscular Dystrophy, and Immune-Mediated Myasthenia Gravis in a Patient With Homozygous Nonsense PLEC Mutation

research Epidermolysis Bullosa Pruriginosa, Muscular Dystrophy, and Immune-Mediated Myasthenia Gravis in a Patient With Homozygous Nonsense PLEC Mutation

July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.

research The Naked Truth: Sphynx and Devon Rex Cat Breed Mutations in KRT71

75 citations, October 2010 in “Mammalian genome”

Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.

research Phenotypic Variability Associated with WNT10A Nonsense Mutations

28 citations, February 2010 in “British journal of dermatology/British journal of dermatology, Supplement”

WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.

research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II

18 citations, November 2009 in “Calcified tissue international”

A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

research FOXN1 Italian Founder Mutation in Indian Family: Implications in Prenatal Diagnosis

17 citations, June 2017 in “Gene”

A rare genetic mutation found in an Indian family can be detected through prenatal screening.

research Scraggly: A New Hair Loss Mutation on Mouse Chromosome 19

14 citations, September 1999 in “Mammalian genome”

The scraggly mutation causes hair loss and skin defects in mice.

research Prevalent Founder Mutation c.736T>A of LIPH in Autosomal Recessive Woolly Hair of Japanese Leads to Variable Severity of Hypotrichosis in Adulthood

12 citations, March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology”

A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.

research CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation

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

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.

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 A Novel Mutation in the FERMT1 Gene in a Spanish Family with Kindler’s Syndrome

8 citations, December 2009 in “Journal of The European Academy of Dermatology and Venereology”

Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.

Association of Rs231775 Genetic Variant of Cytotoxic T-Lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case-Control Study

research Association of Rs231775 Genetic Variant of Cytotoxic T-Lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case-Control Study

7 citations, July 2020 in “Immunological Investigations”

The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.

research Characterization of a Mouse Scube3 Reporter Line

7 citations, November 2010 in “Genesis”

Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.

research Candidate Gene Analysis of Alopecia Areata in Jordanian Population of Arab Descent: A Case-Control Study

6 citations, November 2019 in “The application of clinical genetics”

The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.