Atrichia With Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review

The study investigated congenital atrichia with papular lesions (APL) in a non-consanguineous Chinese family, identifying novel compound heterozygous mutations in the hairless gene (HR). DNA sequencing revealed a nonsense mutation c.T2265A in the patient and his father, and a 2bp deletion (3482delCT) in the patient and his mother. This research marked the first identification of a mutation in exon 10 of HR and added new variants to the understanding of HR mutations in APL. The study also suggested that phenotypic heterogeneity in congenital atrichia might be influenced by founder genes or modifier genes.