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GlossaryNonsense Mutation

change in DNA introduces a premature stop codon

A nonsense mutation, also known as a premature stop codon or termination mutation, is a change in the DNA sequence that introduces a stop codon where there shouldn't be one. This causes the protein synthesis process to halt prematurely, resulting in a truncated and usually nonfunctional protein. This type of mutation can lead to various genetic disorders, including some forms of alopecia, by disrupting the normal function of essential proteins.

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research A Novel PLEC Nonsense Homozygous Mutation (c.7159G > T; p.Glu2387*) Causes Epidermolysis Bullosa Simplex with Muscular Dystrophy and Diffuse Alopecia: A Case Report

18 citations, January 2018 in “BMC dermatology”

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

research Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (Hr^rh-R) in the Hairless Gene (Hr)

10 citations, January 2010 in “Veterinary pathology”

A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.

research Read-Through for Nonsense Mutations in Type XVII Collagen-Deficient Junctional Epidermolysis Bullosa

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

A new therapy for a skin blistering condition has not been developed yet.

research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families

3 citations, February 2020 in “The journal of gene medicine”

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis

8 citations, June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology”

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

research A Novel Nonsense CDH3 Mutation in Hypotrichosis with Juvenile Macular Dystrophy

13 citations, February 2012 in “International Journal of Dermatology”

A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.

research Two Siblings With a Novel Nonsense Mutation, p.R50X, in the Vitamin D Receptor Gene

8 citations, March 2011 in “Endocrine”

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

research Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

181 citations, January 2009 in “Nature Genetics”

Certain mutations in a hair growth-related gene cause a type of genetic hair loss.

research C2orf37 Mutational Spectrum in Woodhouse-Sakati Syndrome Patients

43 citations, April 2010 in “Clinical genetics”

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

research Phenotypic Variability Associated with WNT10A Nonsense Mutations

28 citations, February 2010 in “British journal of dermatology/British journal of dermatology, Supplement”

WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.

research Atrichia With Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review

3 citations, January 2013 in “Dermatology”

New genetic mutations causing hair loss were found in a Chinese family.

research Availability of mRNA from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa

November 2022 in “Journal of Investigative Dermatology”

Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.

research Whole Exome Sequencing in Alopecia Areata Patients Identifies a Hotspot Mutation in the Type II Hair Keratin Gene, KRT82

July 2020 in “The journal of investigative dermatology/Journal of investigative dermatology”

A mutation in the KRT82 gene is significantly associated with Alopecia Areata.

research A Null Mutation in the Cystatin M/E Gene of Ichq Mice Causes Juvenile Lethality and Defects in Epidermal Cornification

66 citations, October 2002 in “Human molecular genetics online/Human molecular genetics”

A gene mutation in mice causes skin defects and early death.

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 Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum

7 citations, January 2018 in “Neurodegenerative Diseases”

Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.

research Prediction of Gain-of-Function and Loss-of-Function Mutations Using Combined Annotation Dependent Depletion

1 citations, September 2017

C-scores can help predict gain-of-function and loss-of-function mutations.

research Molecular Basis of Hypotrichosis with Juvenile Macular Dystrophy in Two Siblings

30 citations, August 2005 in “British journal of dermatology/British journal of dermatology, Supplement”

A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.

research Association Analysis of Polymorphisms in Six Keratin Genes with Wool Traits in Sheep

17 citations, November 2017 in “Asian-Australasian journal of animal sciences”

Certain gene mutations are linked to wool quality in sheep and could help in breeding for better wool.

research Novel De Novo Pathogenic Variant in the ODC1 Gene in a Girl with Developmental Delay, Alopecia, and Dysmorphic Features

39 citations, September 2018 in “American Journal of Medical Genetics Part A”

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules

14 citations, May 2017 in “Journal of Investigative Dermatology”

A rare gene mutation causes skin fragility and itching without affecting hair or nails.

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 Severe Metabolic Disorders Coexisting With Werner Syndrome: A Case Report

6 citations, October 2020 in “Endocrine journal”

A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.

research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods

1 citations, August 2021 in “Canadian journal of neurological sciences”

Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.

WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

197 citations, June 2009 in “American journal of human genetics”

WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.

research Functional Analysis of VDR Gene Mutation R343H in a Child with Vitamin D-Resistant Rickets with Alopecia

6 citations, November 2017 in “Scientific reports”

The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.

Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency

research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency

81 citations, July 2008 in “The Journal of Clinical Endocrinology and Metabolism”

Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.

research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations

62 citations, January 2010 in “Hormone research in paediatrics”

Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.

research Novel TMEM173 Mutation and the Role of Disease-Modifying Alleles

47 citations, December 2019 in “Frontiers in immunology”

A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.

research Tumor Mapping in Two Large Multigenerational Families With CYLD Mutations

44 citations, November 2009 in “Archives of Dermatology”

CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.