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

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.