Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α
ACTN1 mutation
macrothrombocytopenia
mild bleeding
non-sense-mediated mRNA decay
whole-exome sequencing
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2021
2021
Historique:
received:
11
03
2021
accepted:
17
05
2021
entrez:
5
7
2021
pubmed:
6
7
2021
medline:
6
7
2021
Statut:
epublish
Résumé
Inherited macrothrombocytopenia (IMTP) is a rare disorder characterized by a reduced platelet count and abnormally large platelets. The main clinical symptom of IMTP is mild bleeding in some patients. At present, more than 30 genes have been identified in patients with syndromic and non-syndromic IMTP. In this study, a 3-year-old boy and his mother who presented with mild epistaxis and/or gingival bleeding were diagnosed as having IMTP. Wen then selected whole sequencing to explore the genetic lesion of the patients. After data filtering and mutation validation, a novel frameshift mutation (NM_001130004: c.398_399insTGCG, p.F134AfsX60) of α
Identifiants
pubmed: 34222148
doi: 10.3389/fped.2021.679279
pmc: PMC8253534
doi:
Types de publication
Case Reports
Langues
eng
Pagination
679279Informations de copyright
Copyright © 2021 Luo, Fan, Sheng, Dong and Liu.
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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