A Homozygous Missense Variant in Type I Keratin KRT25 Causes Autosomal Recessive Woolly Hair

July 2015 in “ Journal of Medical Genetics ”

Muhammad Ansar, Syed Irfan Raza, Kwanghyuk Lee, Irfanullah, Shamim Shahi, Anushree Acharya, Hang Dai, Joshua D. Smith, Jay Shendure, Michael J. Bamshad, Deborah A. Nickerson, Regie Lyn P. Santos‐Cortez, Wasim Ahmad, Suzanne M. Leal

KRT25 type I keratin woolly hair autosomal recessive hair follicle type II keratins

Studysummary This study identified a new gene involved in woolly hair by linking a homozygous variant in KRT25 to autosomal recessive woolly hair in two Pakistani families. Our plain-language summary of this paper — not a Tressless recommendation.

The study identified a homozygous missense variant c.950T>C (p.(Leu317Pro)) in the KRT25 gene as the cause of autosomal recessive woolly hair (ARWH) in two unrelated consanguineous Pakistani families. This variant was found to disrupt the second α-helical rod domain of the KRT25 protein, potentially affecting its interaction with type II keratins in the hair follicle's inner root sheath and hair shaft medulla. The findings highlighted the role of IRS-specific type I keratins in hair follicle development and maintenance, aligning with observations of similar hair abnormalities in mice with Krt25 mutations. The study provided new insights into the genetic basis of human hair abnormalities.

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research The Twisting Tale of Woolly Hair: A Trait with Many Causes

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Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

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research Genetics of Structural Hair Disorders

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research The Chicken Frizzle Feather Is Due to an Alpha-Keratin (KRT75) Mutation That Causes a Defective Rachis

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This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.

research A Missense Mutation Within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis

78 citations , May 2012 in “Journal of Investigative Dermatology”

A specific gene mutation causes woolly hair and hair loss.

research Keratin Disorders: From Gene to Therapy

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research Novel Mutations in the Keratin-74 (KRT74) Gene Underlie Autosomal Dominant Woolly Hair/Hypotrichosis in Pakistani Families

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research Mutations in the Helix Termination Motif of Mouse Type I IRS Keratin Genes Impair the Assembly of Keratin Intermediate Filament

27 citations , November 2007 in “Genomics”

This study found that mutations in type I IRS keratin genes disrupt keratin protein complexes in mice, suggesting crucial roles for these genes in proper hair coat formation.

research Three-Dimensional Modelling of Interchain Sequence Similarities and Differences in the Coiled-Coil Segments of Keratin Intermediate Filament Heterodimers Highlight Features Important in Assembly

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research Mice Expressing a Mutant KRT75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita

46 citations , September 2007 in “Journal of Investigative Dermatology”

research K25 (K25irs1), K26 (K25irs2), K27 (K25irs3), And K28 (K25irs4) Represent The Type I Inner Root Sheath Keratins Of The Human Hair Follicle

93 citations , July 2006 in “Journal of Investigative Dermatology”

This study describes the expression patterns of type I inner root sheath keratin proteins K25–K28 in human hair follicles, highlighting their distinct distribution within different layers.