Hairless Gene Nonsense Mutations in Alopecia Universalis: A Case Report.
Alopecia
Alopecia universalis
Human hairless gene
Journal
Iranian journal of public health
ISSN: 2251-6093
Titre abrégé: Iran J Public Health
Pays: Iran
ID NLM: 7505531
Informations de publication
Date de publication:
Jun 2021
Jun 2021
Historique:
received:
12
12
2020
accepted:
14
02
2021
entrez:
20
9
2021
pubmed:
21
9
2021
medline:
21
9
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34540749
doi: 10.18502/ijph.v50i6.6429
pii: IJPH-50-1275
pmc: PMC8410955
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1275-1279Informations de copyright
Copyright © 2021 Heidary et al. Published by Tehran University of Medical Sciences.
Déclaration de conflit d'intérêts
Conflict of interest There is no conflict of interest.
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