A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation.
J Clin Lab Anal
; 35(4): e23736, 2021 Apr.
Article
em En
| MEDLINE
| ID: mdl-33626194
ABSTRACT
BACKGROUND:
Laminopathies caused by LMNA gene mutations are characterized by different clinical manifestations. Among them, cardiac involvement is one of the most severe phenotypes. CASE PRESENTATION A 30-year-old man visited the hospital because of palpitations, shortness of breath, and fatigue. He also had muscular dystrophy, joint contractures, scoliosis, and mild dysphagia. A novel de novo heterozygous LMNA splice variant (c.810+1G>T) with dilated cardiomyopathy, Emery-Dreifuss muscular dystrophy, and progressive cardiac conduction defect was identified by genetic analysis. The patient also presented with congenital aortic valve malformation, which has never been reported in laminopathies.CONCLUSIONS:
The LMNA mutation (c.810+1G>T) was identified for the first time, enriching the mutation spectrum of the LMNA gene. The correlation between an LMNA mutation and congenital aortic valve malformation deserves further study.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Valva Aórtica
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Lamina Tipo A
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Laminopatias
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Mutação
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article