Application of next generation sequencing for the diagnosis of congenital hearing loss / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 301-305, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-772021
ABSTRACT
OBJECTIVE@#To identify genetic mutations among patients with hearing loss but without common GJB2, SLC26A4, 12 SrRNA mutations.@*METHODS@#Thirty-three patients were subjected to next-generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing.@*RESULTS@#Four patients were found to harbor previously known pathogenic variations, and four were found to carry suspicious pathogenic variations, which yielded a detection rate of 24.2%.@*CONCLUSION@#NGS can improve the detection rate for mutations underlying congenital hearing loss and improve the efficiency and accuracy of the diagnosis.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Membrane Transport Proteins
/
Connexins
/
Deafness
/
High-Throughput Nucleotide Sequencing
/
Sulfate Transporters
/
Hearing Loss, Sensorineural
/
Mutation
Type of study:
Diagnostic study
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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