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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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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 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 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.

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.

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 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 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.

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 A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2

January 2023 in “Revista Paulista de Pediatria”

A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.

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 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 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 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.

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 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 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 Cantú Syndrome with Coexisting Familial Pituitary Adenoma

14 citations, January 2018 in “Endocrine”

Cantú syndrome may be linked to pituitary adenomas.

research Bald Thigh Syndrome in Sighthounds: Revisiting the Cause of a Well-Known Disease

5 citations, February 2019 in “PloS one”

Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.

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 Salt-Losing Tubulopathy and Chronic Dermatitis

July 2018 in “Kidney international”

Genetic testing for EGFR mutations is crucial in similar cases.

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.

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 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.

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 An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome

20 citations, May 2013 in “International Journal of Molecular Medicine”

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

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.

Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta

research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta

1 citations, May 2023 in “Frontiers in endocrinology”

A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.

research The Glucocorticoid Resistance Syndrome: Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene

December 2023 in “JCEM case reports”

A new gene variant causes glucocorticoid resistance in a mother and son.

Alopecia Areata Susceptibility Variant Identified by MHC Risk Haplotype Sequencing Reproduces Symptomatic Patched Hair Loss in Mice

research Alopecia Areata Susceptibility Variant Identified by MHC Risk Haplotype Sequencing Reproduces Symptomatic Patched Hair Loss in Mice

April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)”

A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.

research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed

3 citations, May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)”

The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.