Analysis of ETFDH gene variation in a Chinese family affected with lipid storage myopathy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1002-1005, 2019.
Article
Dans Chinois
| WPRIM
| ID: wpr-776757
ABSTRACT
OBJECTIVE@#To detect potential variation in an ethnic Han Chinese family affected with late-onset lipid storage myopathy.@*METHODS@#Next generation sequencing (NGS) was used to screen disease-related genes in the proband. Suspected mutation was validated with PCR and Sanger sequencing in two patients, their father, and 100 healthy controls.@*RESULTS@#Heterozygous c.770A>G (p.Tyr257Cys) and c.1395dupT (p.Gly466Tryfs) mutation were detected in the two patients. Their father was found to be heterozygous for the c.770A>G (p.Tyr257Cys) mutation, while the c.1395dupT (p.Gly466Tryfs) variation was not reported previously and not found among the healthy controls.@*CONCLUSION@#Mutations of the ETFDH gene probably underlie the pathogenesis in this family. The novel c.1395dupT (p.Gly466Tryfs) has enriched the mutation spectrum of EDFDH gene.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Flavoprotéines de transfert d'électrons
/
Asiatiques
/
Séquençage nucléotidique à haut débit
/
Oxidoreductases acting on CH-NH group donors
/
Génétique
/
Hétérozygote
/
Ferrosulfoprotéines
/
Erreurs innées du métabolisme lipidique
/
Dystrophies musculaires
/
Mutation
Limites du sujet:
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2019
Type:
Article
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