Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad.
DKC1
c.1156G > A
dyskeratosis congenita syndrome
missense mutation
p.Ala386Thr
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2022
2022
Historique:
received:
13
12
2021
accepted:
25
02
2022
entrez:
25
4
2022
pubmed:
26
4
2022
medline:
26
4
2022
Statut:
epublish
Résumé
Dyskeratosis congenita (DC) is a rare inheritable disorder characterized by bone marrow failure and mucocutaneous triad (reticular skin pigmentation, nail dystrophy, and oral leukoplakia). Dyskeratosis congenita 1 ( Here we described a 14-year-old boy in a Chinese family with a phenotype of abnormal skin pigmentation on the neck, oral leukoplakia, and nail dysplasia in his hands and feet. Genetic analysis and sequencing revealed hemizygosity for a recurrent missense mutation c.1156G > A (p.Ala386Thr) in This
Sections du résumé
Background
UNASSIGNED
Dyskeratosis congenita (DC) is a rare inheritable disorder characterized by bone marrow failure and mucocutaneous triad (reticular skin pigmentation, nail dystrophy, and oral leukoplakia). Dyskeratosis congenita 1 (
Results
UNASSIGNED
Here we described a 14-year-old boy in a Chinese family with a phenotype of abnormal skin pigmentation on the neck, oral leukoplakia, and nail dysplasia in his hands and feet. Genetic analysis and sequencing revealed hemizygosity for a recurrent missense mutation c.1156G > A (p.Ala386Thr) in
Conclusion
UNASSIGNED
This
Identifiants
pubmed: 35463902
doi: 10.3389/fped.2022.834268
pmc: PMC9019361
doi:
Types de publication
Case Reports
Langues
eng
Pagination
834268Informations de copyright
Copyright © 2022 Wang, Li, Xiong, Zhou, Li and Wu.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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