TLDR Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
Researchers identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, initially diagnosed as monilethrix due to a similar hair-shaft abnormality. The maternal allele had an S192P transition, and the paternal allele had a 2039insT mutation, leading to unstable transcripts. These findings suggested that mutations in DSG4 could cause monilethrix-like congenital hypotrichosis and proposed an overlap between localized autosomal recessive hypotrichosis (LAH) and monilethrix.
28 citations
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October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
50 citations
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February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
235 citations
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July 1999 in “Journal of biological chemistry/The Journal of biological chemistry” Human hair is made up of different keratins, some strong and some weak, with specific types appearing at various stages of hair growth.
74 citations
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October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
36 citations
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July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
19 citations
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May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
