Genetic analysis of a male infant with Menkes disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 479-482, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-826550
ABSTRACT
OBJECTIVE@#To carry out genetic testing for a male infant suspected for Menkes disease.@*METHODS@#Genomic DNA of the proband and his parents were extracted and subjected to family trio whole exome sequencing (WES). Microduplication and microdeletion of the ATP7A gene were detected by multiplex ligation-dependent probe amplification (MLPA). Suspected variants were subjected to bioinformatic analysis and verified by Sanger sequencing.@*RESULTS@#The proband was found to harbor a de novo c.1870 -13T>G variation of the ATP7A gene, which may alter a splice site and affect its protein product.@*CONCLUSION@#The patient was diagnosed with Menkes disease due to the c.1870 -13T>G variant of the ATP7A gene. Whole exome sequencing of family trios is a powerful tool for the diagnosis of diseases with strong phenotypic heterogeneity.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Genetic Testing
/
Multiplex Polymerase Chain Reaction
/
Copper-Transporting ATPases
/
Exome Sequencing
/
Genetics
/
Menkes Kinky Hair Syndrome
/
Mutation
Type of study:
Prognostic study
Limits:
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article
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