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GlossaryHeterozygous

having two different alleles for a specific gene

Heterozygous refers to having two different alleles for a specific gene, one inherited from each parent. For example, if a person has one allele for brown hair and one for blonde hair, they are heterozygous for the hair color gene. This genetic variation can influence traits and the likelihood of passing certain characteristics to offspring.

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Copper Loading Studies in Brindled Mouse Hemizygotes and Heterozygotes

research 1123 COPPER LOADING (CuL) STUDIES IN BRINDLED (Br) MOUSE HEMIZYGOTES AND HETEROZYGOTES

April 1981 in “Pediatric research”

Copper treatments increase copper in all tissues, but brindled female mice accumulate much more copper in their kidneys without clinical effects, unlike brindled male mice where brain copper deficiency is clinically significant.

research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption

November 2025 in “American Journal of Case Reports”

Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.

Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

research Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

53 citations , August 2019 in “American journal of human genetics”

FOXN1 gene variants cause low T cells and immune issues from birth.

research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion

4 citations , October 2021 in “Journal of Clinical Medicine”

Carriers of a specific gene mutation have subtle skin changes without visible symptoms.

research Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi

1 citations , April 2024 in “Animal Genetics”

A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.

research Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism

1 citations , August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft”

A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.

research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome

May 2025

A KRT32 gene variant causes loose anagen hair syndrome.

research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome

May 2024 in “Animal genetics”

A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.

research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

1 citations , September 2023 in “Frontiers in Genetics”

A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.

research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions

23 citations , July 2003 in “Journal of Investigative Dermatology”

Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.

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.

Case Report: Compound Heterozygous Variants in LSS and TSPEAR Genes Causing Hypotrichosis Type 14 Complicated with Ectodermal Dysplasia Type 14

research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14

January 2026 in “Frontiers in Medicine”

A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.

research Compound Heterozygous Mutations in Forkhead Box N1 (FOXN1) Lead to a Severe Immunodeficiency but Normal Hair and Nail Development in Patients

May 2018 in “The journal of immunology/The Journal of immunology”

Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.

research Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene

9 citations , June 2000 in “Journal of The American Academy of Dermatology”

Mutation in hairless gene may increase hair loss risk.

research Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene

2 citations , June 2000 in “Journal of The American Academy of Dermatology”

Mutation in hairless gene may increase hair loss risk.

A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome

research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome

1 citations , November 2024 in “Diabetes Metabolic Syndrome and Obesity”

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.

29 citations , January 1996 in “The Journal of Clinical Endocrinology & Metabolism”

A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome

11 citations , January 2021 in “British Journal of Dermatology”

Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.

research Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis

6 citations , January 2013 in “The Journal of Dermatology”

Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.

research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy

5 citations , May 2014 in “Clinical and Experimental Dermatology”

Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.

research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy

1 citations , June 2022 in “Chinese medical journal/Chinese Medical Journal”

Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.

research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter

March 2023 in “JAAD case reports”

A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.

research Patients with Compound Heterozygous Mutations in Forkhead Box N1 have a Severe Immunodeficiency while Maintaining Normal Skin and Hair Development

May 2017 in “The journal of immunology/The Journal of immunology”

Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.

research Nonclassic congenital adrenal hyperplasia and the heterozygote carrier

2 citations , April 2013 in “Expert Review of Endocrinology & Metabolism”

Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.

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 Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene

13 citations , January 2018 in “Yonsei Medical Journal”

A specific gene mutation causes Olmsted syndrome.

Complete Defect in PA-PLA1α Secretion Function Leading to Autosomal Recessive Woolly Hair and Hypotrichosis: Insights from a Novel Compound Heterozygous LIPH Variant Study in a Chinese Pedigree

research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree

May 2025 in “Frontiers in Genetics”

A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.

Type A Insulin Resistance Syndrome Due to a Novel Heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR Gene Mutation in an Adolescent Girl and Her Mother

research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother

January 2024 in “Archives of Endocrinology and Metabolism”

A new gene mutation causes insulin resistance in a girl and her mother.

research Alopecia areata in a patient with WNT10A heterozygous ectodermal dysplasia

June 2021 in “Dermatology Online Journal”

A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.

research SAT-293 Novel Presentation Of A Heterozygous INSR Mutation And Markedly Elevated Testosterone Levels In A Pediatric Patient, A Case Report.

April 2019 in “Journal of the Endocrine Society”

A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.