Analysis of a Chinese pedigree with autosomal dominant Charcot-Marie-Tooth disease type 2A2A / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 181-183, 2021.
Article
em Zh
| WPRIM
| ID: wpr-879551
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis of a pedigree affected with peroneal muscular atrophy.@*METHODS@#Neuroelectrophysiological examination and whole exome sequencing were carried out for the proband, a six-year-and-ten-month-old boy. Suspected variant was verified in his family members through Sanger sequencing. Bioinformatic analysis was carried to predict the conservation of amino acid sequence and impact of the variant on the protein structure and function.@*RESULTS@#Electrophysiological examination showed demyelination and axonal changes of motor and sensory nerve fibers. A heterozygous missense c.1066A>G (p. Thr356Ala) variant was found in exon 11 of the MFN2 gene in the proband and his mother, but not in his sister and father. Bioinformatic analysis using PolyPhen-2 and Mutation Taster software predicted the variant to be pathogenic, and that the sequence of variation site was highly conserved among various species. Based no the American College of Medical Genetics and Genomics standards and guidelines, the c.1066A>G (p. Thr356Ala) variant of MFN2 gene was predicted to be likely pathogenic (PS1+ PM2+ PP3+ PP4).@*CONCLUSION@#The heterozygous missense c.1066A>G (p.Thr356Ala) variant of the MFN2 gene probably underlay the disease in the proband, and the results have enabled genetic counseling and prenatal diagnosis for this family.
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Base de dados:
WPRIM
Assunto principal:
Linhagem
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Doença de Charcot-Marie-Tooth
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China
/
Éxons
/
Proteínas de Drosophila
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Sequenciamento do Exoma
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Heterozigoto
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Proteínas de Membrana
/
Mutação
Tipo de estudo:
Guideline
Limite:
Child
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Female
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Humans
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Male
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Pregnancy
País/Região como assunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Article