Open AccessHairless Gene Nonsense Mutations in Alopecia Universalis: A Case Report
Author(s) -
Hamed Heidary,
Afrouz Mardi,
Seyyed Mohammad Mousavi,
Ghasem Khazaie,
Fereshteh Golab
Publication year - 2021
Publication title -
iranian journal of public health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.452
H-Index - 39
eISSN - 2251-6093
pISSN - 2251-6085
DOI - 10.18502/ijph.v50i6.6429
Subject(s) - exon , alopecia universalis , genetics , nonsense mutation , nonsense , gene , biology , mutation , genetic counseling , hair loss , missense mutation , medicine
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.