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GlossaryHomozygous Mutation

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 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 Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan

August 2020 in “Pakistan Journal of Zoology”

A new mutation in the Hairless gene causes hair loss in two Pakistani families.

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.

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 BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil

June 2025 in “British Journal of Dermatology”

Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.

research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family

1 citations , September 2021 in “Frontiers in genetics”

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

research [Molecular cloning of full-long cDNA sequences encoding hairless gene in the Kunming mouse].

November 2005 in “PubMed”

The hairless gene in Kunming mice is important for hair and skin, and shows genetic variations.

research Angora Mouse Mutation: Altered Hair Cycle, Follicular Dystrophy, Phenotypic Maintenance of Skin Grafts, and Changes in Keratin Expression

69 citations , May 1997 in “Veterinary Pathology”

The angora mouse mutation causes long hair and hair defects due to a gene deletion.

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 A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

33 citations , October 2005 in “Journal of Investigative Dermatology”

A specific gene mutation causes sparse, brittle hair in a family.

research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

44 citations , August 2004 in “Journal of Investigative Dermatology”

A gene deletion in DSG4 causes sparse hair in some Pakistani families.

research Efficient Editing of CSLD2 Orthologue by CRISPR/Cas9 Affects Cell Morphogenesis of Root Hair in Spinach

1 citations , January 2022 in “Research Square (Research Square)”

CRISPR/Cas9 editing in spinach affects root hair growth by altering specific genes.

research Adam10 haploinsufficiency causes freckle-like macules in Hairless mice

13 citations , July 2012 in “Pigment Cell & Melanoma Research”

A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.

research The ITGB6 gene: its role in experimental and clinical biology

28 citations , November 2019 in “Gene”

The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.

Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters

research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters

1 citations , May 2023 in “European Journal of Human Genetics”

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

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 Identification of the Rat Rex Mutation as a 7-bp Deletion at Splicing Acceptor Site of the Krt71 Gene

45 citations , January 2010 in “Journal of Veterinary Medical Science”

A gene mutation causes curly hair and hair loss in rats.

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.

A Novel Nonsense Mutation in the STS Gene in a Pakistani Family with X-Linked Recessive Ichthyosis: Including a Very Rare Case of Two Homozygous Female Patients

research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients

6 citations , January 2020 in “BMC Medical Genetics”

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

research Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat

28 citations , October 2004 in “Differentiation”

A gene deletion causes the "hairless" trait in Iffa Credo rats.

research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita

22 citations , February 2012 in “Journal of Investigative Dermatology”

A specific gene mutation causes severe skin and nail issues and hair loss.

research CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS)

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

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

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.

Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review

research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review

March 2024 in “Frontiers in endocrinology”

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

Homologous Recombination Induced by Doxazosin Mesylate and Saw Palmetto in the Drosophila Wing-Spot Test

research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus

November 2012 in “Experimental and Clinical Endocrinology & Diabetes”

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

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”

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

research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population

8 citations , December 2019 in “Molecular genetics and metabolism reports”

Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.