Disease causing homozygous variants in the human hairless gene

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• 作者：Sabba Mehmood ; Abid Jan ; Syed Irfan Raza ; Farooq Ahmad ; Muhammad Younus ; Irfanullah ; Shamim Shahi ; Muhammad Ayub ; Saadullah Khan and Wasim Ahmad
• 刊名：International Journal of Dermatology
• 出版年：2016
• 出版时间：September 2016
• 年：2016
• 卷：55
• 期：9
• 页码：977-981
• 全文大小：686K
• ISSN：1365-4632

文摘

Atrichia with papular lesions (APL) is a rare irreversible form of complete hair loss inherited in autosomal recessive manner. Hair loss is often followed by the appearance of multiple keratin-filled cysts or papules on exterior parts of the body. This phenotype results due to mutations in the human hairless gene (HR) mapped on chromosome 8p21.3. The present study was aimed to search for disease-causing sequence variants in the HR gene in five consanguineous families exhibiting features of APL.