More Than One Gene Involved in Monilethrix: Intracellular but Also Extracellular Players

May 2006 in “ Journal of Investigative Dermatology ”

Jürgen Schweizer

monilethrix type II hair cortex keratins desmoglein 4 DSG4 desmosomal cadherin localized autosomal recessive hypotrichosis LAH Pro267Arg hair follicle differentiation

Studysummary Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.

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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”

This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.

research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions

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

Mutations in the DSG4 gene cause specific hair and scalp issues.

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”

This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.

research A Missense Mutation in the Cadherin Interaction Site of the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

33 citations , October 2005 in “Journal of Investigative Dermatology”

A specific gene mutation causes sparse, brittle hair in a family.

research A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix

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

This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.

research Keratins of the Human Hair Follicle

276 citations , January 2005 in “International review of cytology”

More research is needed to understand how hair keratins work and their role in hair disorders.

research Intragenic Deletion in the Desmoglein 4 Gene Underlies the Skin Phenotype in the Iffa Credo Hairless Rat

28 citations , October 2004 in “Differentiation”

This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.

research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

44 citations , August 2004 in “Journal of Investigative Dermatology”

A gene deletion in DSG4 causes sparse hair in some Pakistani families.

research The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene

50 citations , February 2004 in “Genomics”

This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.

research Lanceolate Hair-J (LahJ): A Mouse Model for Human Hair Disorders

37 citations , June 2000 in “Experimental dermatology”

This study investigated a spontaneous mutation in mice resulting in hair abnormalities and elevated IgE levels, which resembles human Netherton's syndrome and monilethrix.

research Evidence for Genetic Heterogeneity in Monilethrix

30 citations , December 1996 in “Journal of Investigative Dermatology”

research Lanceolate Hair (Lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair

36 citations , July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology”

This research reports a new autosomal recessive mutation in mice, 'lanceolate hair', causing generalized alopecia and hair shaft abnormalities, which may serve as a model for Netherton's syndrome in humans.