Review of Keratin Disorders

November 2019 in “ Harper's Textbook of Pediatric Dermatology ”

Maurice A. M. Van Steensel, Peter M. Steijlen

keratin epithelial keratins molecular genetics genetic mutations skin disorders hair disorders nail disorders

The review discussed disorders caused by mutations in genes coding for epithelial keratins, which are crucial for the structural integrity of cells and tissues. These mutations led to various disorders affecting the skin, hair, and nails, with symptoms ranging from mild to severe. Accurate diagnosis increasingly relied on molecular genetics. Although there were no specific treatments available at the time, advancements in understanding the biology of these disorders suggested potential future therapeutic developments.

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Research cited in this study

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research A Splice Variant in KRT71 Is Associated with Curly Coat Phenotype of Selkirk Rex Cats

40 citations , June 2013 in “Scientific Reports”

A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.

research Loss-Of-Function Mutations In HOXC13 Cause Pure Hair And Nail Ectodermal Dysplasia

74 citations , October 2012 in “The American Journal of Human Genetics”

Mutations in the HOXC13 gene cause hair and nail development issues.

research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation

11 citations , July 2010 in “European Journal of Dermatology”

The condition is linked to chromosome 12, but no mutations were found in the known genes.

research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture

97 citations , March 2010 in “The American Journal of Human Genetics”

A mutation in the KRT74 gene causes tightly curled hair.

research The human keratins: biology and pathology

1398 citations , May 2008 in “Histochemistry and Cell Biology”

Keratins are crucial for cell stability, wound healing, and cancer diagnosis.

research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis

97 citations , March 2006 in “Journal of Investigative Dermatology”

The study identified mutations in the DSG4 gene as the cause of an autosomal recessive form of monilethrix in 12 Jewish families from Iraq, Iran, and Morocco, involving 24 family members, including 15 patients. This form was characterized by fragile, brittle hair and follicular hyperkeratosis, differing from the autosomal dominant form linked to keratin gene mutations. Four different DSG4 mutations were found, with a common haplotype on chromosome 18q among Iraqi patients, suggesting a genetic overlap with localized autosomal recessive hypotrichosis. The study emphasized the role of DSG4 in hair disorders and its implications for genetic counseling, noting the severity of the recessive form with more extensive alopecia and skin manifestations.

research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

60 citations , March 2006 in “Journal of Medical Genetics”

research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis

74 citations , January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology”

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix

79 citations , March 2005 in “Journal of Medical Genetics”

research An Unusual Ala12Thr Polymorphism in the 1A α-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae

88 citations , March 2004 in “Journal of Investigative Dermatology”

research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation

53 citations , October 2003 in “Genetics”

The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.

research HOXC13 Is Involved in the Regulation of Human Hair Keratin Gene Expression

132 citations , February 2002 in “Journal of Biological Chemistry”

HOXC13 is crucial for regulating hair keratin genes in hair follicles.

research A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix

100 citations , November 1997 in “Human Genetics”

research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix

175 citations , August 1997 in “Nature Genetics”

research Human hair keratins

90 citations , July 1993 in “Journal of Investigative Dermatology”

Related Research

1 / 1 results

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”

This review explored the structure, function, and regulation of keratin intermediate filaments (IFs), highlighting both established ('hard') and emerging ('soft') principles. It discussed the discovery of novel keratin genes, the mechanics of keratin filaments, and the functional redundancy revealed by gene knockouts. The study also examined the role of keratin mutations in various diseases and the regulation of keratin through interactions with other proteins. The field was noted to be rapidly advancing, driven by transgenic models and new insights into keratin's protective roles in cellular stress responses.