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

January 2013 in “ Dermatology ”

Shuang Wang, Chen‐Pei D. Tu, Yuandong Feng, Xiaopeng Wang, Dingwei Zhang, Shengxiang Xiao

atrichia with papular lesions APL hairless gene HR nonsense mutation 2bp deletion exon 10 phenotypic heterogeneity congenital atrichia founder genes modifier genes

TLDR New genetic mutations causing hair loss were found in a Chinese family.

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.

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