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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.

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