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Glossary Monilethrix

rare genetic condition causing beaded, fragile hair shafts

Monilethrix is a rare genetic condition that affects the hair shaft, causing it to be beaded or segmented, which makes the hair fragile and prone to breakage. This results in sparse, short, and brittle hair. The condition is usually inherited in an autosomal dominant pattern and can be diagnosed through microscopic examination of the hair.

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Research

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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”

In this study, researchers found that the prevalent Glu 410 Lys mutation in hHb6 and a new Glu 403 Lys mutation in hHb1 are linked to monilethrix, suggesting a mutational hotspot in type II hair keratins.

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 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 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.

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