A Mutation in the Hair Matrix and Cuticle Keratin KRTHB5 Gene Causes Ectodermal Dysplasia of Hair and Nail Type

March 2006 in “ Journal of Medical Genetics ”

Muhammad Naeem

KRTHB5 gene ectodermal dysplasia hair matrix cuticle keratin type II hair keratin genes homozygous missense mutation chromosome 12q12–q14.1

Studysummary This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.

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Research cited in this study

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research Characterization of New Members of the Human Type II Keratin Gene Family and a General Evaluation of the Keratin Gene Domain on Chromosome 12q13.13

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research The Keratins and Their Disorders

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research Expression of Hair Keratins in the Adult Nail Unit: An Immunohistochemical Analysis of Onychogenesis in the Proximal Nail Fold, Matrix, and Nail Bed

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research Hypotrichosis and Nail Dysplasia: A Novel Hidrotic Ectodermal Dysplasia

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This report describes a rare case of hair and nail ectodermal dysplasia in a 3-year-old girl, where treatment with topical minoxidil resulted in minimal improvement after 12 months.

research Hard and Soft Principles Defining the Structure, Function, and Regulation of Keratin Intermediate Filaments

686 citations , February 2002 in “Current Opinion in Cell Biology”

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research The Catalog of Human Hair Keratins

272 citations , September 2001 in “Journal of Biological Chemistry”

This study cataloged human type II hair keratins, detailing their expression and differentiation roles in hair follicles and comparing them with type I keratins to explore keratin-pairing principles.

research Characterization of a 300 Kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain

77 citations , March 2000 in “Journal of Investigative Dermatology”

The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.

research The Catalog of Human Hair Keratins

235 citations , July 1999 in “Journal of biological chemistry/The Journal of biological chemistry”

This study establishes a catalog of human type I hair keratins and identifies their specific roles and expression patterns during hair differentiation and growth in scalp follicles.