Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan

    August 2020 in “ Pakistan Journal of Zoology ”
    Muhammad Ajmal, Saima Mustafa, Fizza Ibrahim Bajwa, Cheng Zhou, Guangdong Wen, Soe Lwin Myint, Syed M. Raza, Ihtasham Bukhari, Mubashir Hassan, Muhammad Salman Faisal, Furhan Iqbal
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    TLDR A new mutation in the Hairless gene causes hair loss in two Pakistani families.
    In 2021, a study on two families from Southern Punjab, Pakistan, suffering from alopecia, identified a novel deletion mutation (c.429delC) in the Hairless (HR) gene. This mutation caused a frameshift and premature termination of the HR protein, resulting in a truncated protein and destabilization of mRNA, which led to inactivation of gene function and alopecia. The mutation followed a Mendelian pattern of inheritance, with all patients being homozygous for the mutation, while parents were heterozygous and unaffected siblings either heterozygous or lacking the mutation. The study concluded that mutations in the HR gene can lead to a variety of hair loss conditions.
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