Congenital Atrichia With Papular Lesions Resulting From Novel Mutations in Human Hairless Gene in Four Consanguineous Families

February 2011 in “ The Journal of Dermatology ”

Zahid Azeem, Naveed Wasif, Sulman Basit, Suhail Razak, Raja Amjad WAHEED, Adeel Islam, Muhammad Ayub, Kafaitullah, Syed Kamran‐ul‐Hassan Naqvi, Ghazanfar Ali, Wasim Ahmad

congenital atrichia papular lesions alopecia human hairless gene HR gene chromosome 8p21.1 nonsense mutations missense mutation hairless gene

Studysummary This study observed four consanguineous families with congenital atrichia with papular lesions and identified three novel mutations in the hairless gene, which may contribute to the disorder.

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The study investigated congenital atrichia with papular lesions (APL), a rare form of irreversible alopecia, in four consanguineous families. APL is characterized by hair loss shortly after birth and the development of keratin-filled cysts on the body, following an autosomal recessive inheritance pattern. The research identified that all four families had mutations in the human hairless (HR) gene located on chromosome 8p21.1. Specifically, three novel mutations were discovered: two nonsense mutations (p.Cys690X, p.Arg819X) and one missense mutation (p.Pro1157Arg). These findings contributed to the understanding of the genetic basis of APL.

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