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GlossaryMissense Mutation (missense variant)

single nucleotide change alters one amino acid in a protein

A missense mutation is a type of genetic alteration where a single nucleotide change results in the substitution of one amino acid for another in the protein produced by a gene. This can affect the protein's function, potentially leading to diseases or conditions, such as certain forms of alopecia, where hair loss occurs due to disrupted protein function in hair follicles.

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A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome

research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome

December 2023 in “American journal of medical genetics. Part A”

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

research Two Mutations at KRT74 and EDAR Synergistically Drive the Fine-Wool Production in Chinese Sheep

2 citations, May 2023 in “Journal of Advanced Research”

Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.

Expansion of the Spectrum of ITGB6-Related Disorders to Adolescent Alopecia, Dentogingival Abnormalities, and Intellectual Disability

research Expansion of the Spectrum of ITGB6-Related Disorders to Adolescent Alopecia, Dentogingival Abnormalities, and Intellectual Disability

19 citations, December 2015 in “European Journal of Human Genetics”

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

research Genetics of Blond Hair

May 2012 in “Nature Genetics”

Blond hair in Solomon Islanders is due to a unique genetic variant, not European ancestry.

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 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 Gene Detection in a Family With Monilethrix and Observation of the Treatment Effect With 5% Topical Minoxidil

September 2022 in “Research Square (Research Square)”

5% topical minoxidil improves hair density and quality in monilethrix patients.

research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia

June 2024 in “Genes”

A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.

research Gene Detection in a Family With Monilethrix and Treatment With 5% Topical Minoxidil

2 citations, November 2022 in “Skin research and technology”

5% topical minoxidil improves hair density and quality in monilethrix patients.

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 Loss-Of-Function of Endothelin Receptor Type A Results in Oro-Oto-Cardiac Syndrome

11 citations, March 2020 in “American Journal of Medical Genetics Part A”

A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.

research Twins With Psychiatric Features and a Nonsense HRAS Variant Affecting Transcript Processing

October 2023 in “Psychiatry research. Case reports”

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric 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 Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Long Hair in the Maine Coon Cat

2 citations, June 2021 in “Research Square (Research Square)”

A new gene mutation causes long hair in some Maine Coon cats.

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.

research Exome-Wide Age-of-Onset Analysis Reveals Exonic Variants in ERN1, TACR3, and SPPL2C Associated with Alzheimer’s Disease

January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)”

Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.

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 Gene-Environment Interaction Between CYP1B1 and Oral Contraception on Frontal Fibrosing Alopecia

May 2024 in “JAMA Dermatology”

Oral contraceptive use may increase the risk of frontal fibrosing alopecia in women with a specific CYP1B1 gene variant.

Poster Presentations SG11 KRT14 Pathogenic Or Likely Pathogenic Variants Beyond Epidermolysis Bullosa: Dermatopathia Pigmentosa Reticularis

research Poster Presentations SG11 KRT14 Pathogenic Or Likely Pathogenic Variants Beyond Epidermolysis Bullosa: Dermatopathia Pigmentosa Reticularis

June 2024 in “British Journal of Dermatology”

KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.

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 Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2

8 citations, April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

Certain genetic changes in the LSS gene cause a rare skin and hair condition.

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 Abstracts From The 55th European Society Of Human Genetics 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.

research PLCD1 and Pilar Cysts

5 citations, October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology”

The research linked PLCD1 gene variants to the development of trichilemmal cysts.

research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle

2 citations, July 2021 in “Genes”

A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.

research Variant PADI3 in Central Centrifugal Cicatricial Alopecia

95 citations, February 2019 in “The New England Journal of Medicine”

Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.

research NUDT15, FTO, and RUNX1 Genetic Variants and Thiopurine Intolerance Among Japanese Patients With Inflammatory Bowel Diseases

40 citations, January 2017 in “Intestinal Research”

Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.

NUDT15 Polymorphism Explains Serious Toxicity to Azathioprine in Indian Patients With Chronic Immune Thrombocytopenia and Autoimmune Hemolytic Anemia: A Case Series

research NUDT15 Polymorphism Explains Serious Toxicity to Azathioprine in Indian Patients With Chronic Immune Thrombocytopenia and Autoimmune Hemolytic Anemia: A Case Series

10 citations, August 2020 in “Drug metabolism and drug interactions”

The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.

research High-Throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort

2 citations, July 2022 in “Journal of the Endocrine Society”

Some women with PCOS have rare genetic variants linked to the condition.

research Rare and Common Genetic Determinants of Metabolic Individuality and Their Effects on Human Health

29 citations, November 2022 in “Nature Medicine”

Genetic variations greatly affect individual metabolism and can impact health and disease risk.