Identification of a novel c.1A>G variant of GDAP1 gene in a pedigree affected with autosomal recessive fibula atrophy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1244-1246, 2020.
Article
Dans Chinois
| WPRIM
| ID: wpr-879476
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a pedigree affected with Charcot-Marie-Tooth (CMT) disease through high-throughput sequencing.@*METHODS@#Potential variants of the genes associated with CMT were screened by next-generation sequencing (NGS) of the members of the pedigree.@*RESULTS@#NGS has revealed that the two affected sisters both harbored homozygous c.1A>G variant of the GDAP1 gene, which caused replacement of the first amino acid Methionine by Valine (p.Met1Val). Their parents were both carriers of the heterozygous c.1A>G variant. The variant was unreported previously and has an extremely low frequency in the population. Meanwhile, one of the sisters and the mother also carried heterozygous c.710A>T variant of the BAG3 gene.@*CONCLUSION@#The homozygous c.1A>G variant of the GDAP1 gene probably underlay the CMT in both children. Above result has enabled clinical diagnosis and genetic counseling for this pedigree.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Maladie de Charcot-Marie-Tooth
/
Protéines adaptatrices de la transduction du signal
/
Protéines régulatrices de l'apoptose
/
Fibula
/
Homozygote
/
Mutation
/
Protéines de tissu nerveux
Type d'étude:
Etude diagnostique
/
Étude pronostique
Limites du sujet:
Enfant
/
Femelle
/
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2020
Type:
Article
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