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
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Charcot-Marie-Tooth Disease
/
Adaptor Proteins, Signal Transducing
/
Apoptosis Regulatory Proteins
/
Fibula
/
Homozygote
/
Mutation
/
Nerve Tissue Proteins
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Child
/
Female
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article
Similar
MEDLINE
...
LILACS
LIS