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Glossary Whole-Exome Sequencing

sequencing all protein-coding regions of genes in a genome

Whole-Exome Sequencing (WES) is a genomic technique that involves sequencing all the protein-coding regions of genes in a genome, known as exons. These regions make up about 1-2% of the human genome but contain around 85% of known disease-related genetic variants, making WES a powerful tool for identifying genetic mutations associated with various conditions, including alopecia.

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Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment

research Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment

13 citations , October 2024 in “Scientific Reports”

In this study using data from young women in West Bengal, India, the researchers identified that leptin signaling impairment, insulin resistance, and specific gene mutations significantly contribute to PCOS, with obesity commonly manifesting in affected individuals.

research Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82

9 citations , February 2022 in “Nature communications”

This study identified KRT82 as a significant Alopecia Areata risk gene, finding that rare damaging variants are linked to elevated immune cell infiltration around hair follicles in affected individuals.

research Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome (PCOS) Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment

June 2024 in “Research Square (Research Square)”

This study found that among young women in West Bengal, India, co-occurring PCOS and related conditions like estrogen resistance and leptin receptor insufficiency are common, with notable genetic variations identified, including impairments in leptin signaling and insulin resistance.

research 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82

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

This study found that rare damaging variants in the KRT82 gene, which affect hair shaft integrity, may contribute to the risk of alopecia areata.

Multi-Ancestry Tandem Repeat Association Study of Hair Color Using Exome-Wide Sequencing

research Multi-ancestry tandem repeat association study of hair colour using exome-wide sequencing

February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)”

This study found that certain tandem repeats predict darker hair color across diverse ancestry groups and can contribute to a polygenic score for hair color, independent of SNP variation.

research Novel genes and variants associated with longevity in Bulgarian centenarians revealed by whole exome sequencing DNA pools: a pilot study

1 citations , January 2020 in “Journal of Translational Genetics and Genomics”

This study identified 47 genetic variants with a higher frequency in centenarians compared to young controls in the Bulgarian population, suggesting potential associations with longevity.

research 303 The role of rare variants in male-pattern hair loss: Analysis of whole exome sequencing data in the UK Biobank

November 2022 in “Journal of Investigative Dermatology”

This study found a minimal overall contribution of rare coding variants to male-pattern hair loss but identified significant associations with rare variants in 125 genes, including novel candidate genes.

research ESDR303 – The role of rare variants in male-pattern hair loss: Analysis of whole exome sequencing data in the UK Biobank

September 2022

This study found that rare coding variants have a minimal contribution to male-pattern hair loss but identified significant associations with 125 genes, suggesting potential novel candidate genes.

research Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data

37 citations , August 2020 in “BMC Genomics”

This study found that while genetic variants contribute minimally to predicting hair greying in a Polish population, age remains the primary predictor, underscoring the complexity of hair greying as a genetic trait.

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”

This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.

research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies

3 citations , June 2022 in “European journal of human genetics”

This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.

research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development

January 2025 in “Case Reports in Genetics”

The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.

research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix

July 2024 in “British journal of dermatology/British journal of dermatology, Supplement”

This study identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.

research Correlation analysis of four KRTAP gene polymorphisms and cashmere fiber diameters in two cashmere goat breeds

September 2022 in “Canadian journal of animal science”

This study found that polymorphisms in KRTAP13.1, KRTAP27-1, and KRTAP24-1 were significantly associated with fiber diameter in Jiangnan cashmere goats, which may aid future breeding and conservation efforts.

research Exploiting molecular genetic diagnoses of polycystic ovary syndrome to achieve better patient outcome

January 2018 in “Murdoch Research Repository (Murdoch University)”

This study identified putative causal mutations for PCOS among first-degree relatives, although functional analysis of a specific GDF9 mutation was unsuccessful.

research The role of functional variants in the aetiology of polycystic ovary syndrome

January 2017 in “Murdoch Research Repository (Murdoch University)”

This study identified the novel genetic variant rs143321413 within the EEF2K gene, which may play a role in the development of polycystic ovary syndrome.

research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2

May 2015 in “Journal of Dermatological Science”

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

research PLCD1 and Pilar Cysts

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

This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.

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”

This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.

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”

This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.

research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa

September 2024 in “Journal of Medicine and Life”

In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.

research Utilizing functional genomics approaches to characterize risk genes in alopecia areata

January 2020 in “Columbia Academic Commons (Columbia University)”

This study utilized targeted genomic sequencing and whole exome sequencing to identify novel common and rare genetic variants in Alopecia Areata, revealing potential mechanisms contributing to disease susceptibility.

research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

119 citations , November 2016 in “American journal of human genetics”

This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.

research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

55 citations , November 2018 in “American journal of human genetics”

This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.

research De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

36 citations , March 2019 in “European Journal of Human Genetics”

This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.

research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants

13 citations , June 2024 in “Frontiers in Genetics”

This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.

research Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth

10 citations , October 2017 in “Pediatric neurology”

This case report suggests that poor hair and nail growth in children with autism spectrum disorder and developmental delay may indicate a biotin-responsive condition, as biotin and acetazolamide therapy improved symptoms and school performance in the reported patient.

research Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

8 citations , May 2022 in “Orphanet Journal of Rare Diseases”

This study reported that the Undiagnosed Disease Program at Ghent University Hospital successfully provided definite diagnoses for 18% of referred adults with suspected rare diseases, primarily through genomic technologies.

Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center Within the Middle East and North Africa Region

research Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region

January 2025 in “Dermatology Practical & Conceptual”

In this study, researchers identified four gene variants that may contribute to androgenic alopecia and vitiligo, proposing a novel di-genic inheritance model that could help guide genomic approaches for personalized treatment and early diagnosis.

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”

This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with the condition.