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,
October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
50 citations,
February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
37 citations,
June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
235 citations,
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,
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,
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,
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.
