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Iranian Journal of Public Health، جلد ۵۰، شماره ۶، صفحات ۱۲۷۵-۱۲۷۹
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عنوان انگلیسی Hairless Gene Nonsense Mutations in Alopecia Universalis: A Case Report
چکیده انگلیسی مقاله Alopecia universalis (AU) congenital, known as generalized atrichia, is a severe form of autosomal recessive alopecia that results in complete hair loss of scalp and body. Mutations in the human hairless gene (HR) are associated with the phenotype of the disease. A consanguineous couple who had a child with the generalized atrichia sign referred to us for genetic counseling. According to the patient's symptoms and after thorough examination and history taking, the HR gene was the candidate gene to be assessed and analyzed. For this purpose targeted primers were designed for all exons of the HR gene followed by running PCR for exons amplification. Finally, the PCR products were sequenced. Whole-gene sequence analysis revealed a nonsense homozygous mutation in exon 6 that, according to the ACMG guide, is a pathogenic variant. Sequence analysis of the exon in parents reveals that they are heterozygout for the non-sense mutation, as well.
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نویسندگان مقاله | Hamed Heidary
Department of Medical Genetics, Ali Asghar Hospital, Iran University of Medical Sciences, Tehran, Iran


| Ali Mardi
Department of Medical Genetics, Ali Asghar Hospital, Iran University of Medical Sciences, Tehran, Iran


| Seyyed Mohammad Mousavi
1. Department of Medical Genetics, Ali Asghar Hospital, Iran University of Medical Sciences, Tehran, Iran


| Ghasem Khazaie
Cellular and Molecular Research Center, Iran University of Medical Sciences, Tehran, Iran


| Fereshteh Golab
Cellular and Molecular Research Center, Iran University of Medical Sciences, Tehran, Iran
نشانی اینترنتی https://ijph.tums.ac.ir/index.php/ijph/article/view/19823
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