Application of next generation sequencing and Sanger sequencing in a pedigree affected with hereditary non-syndromic deafness / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 864-867, 2018.
Article
in Zh
| WPRIM
| ID: wpr-775818
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#To detect potential mutation in a pedigree affected with autosomal recessive non-syndromic deafness.@*METHODS@#Mutation analysis was carried out by next generation sequencing, and suspected mutations were verified by Sanger sequencing.@*RESULTS@#A heterozygous c.235delC mutation of the GJB2 gene, together with compound heterozygous mutations of the OTOF gene [c.1194T>A (p.D398E) and c.2180A>G (p.N727S)] were detected in the proband. The sister of the proband (also had hearing loss) has carried a heterozygous c.235delC mutation in the GJB2 gene, in addition with a heterozygous c.2180A>G(p.N727S) mutation of the OTOF gene. By Sanger sequencing, a heterozygous IVS1+2T>A mutation was further detected in the non-coding region of the GJB2 gene in both sisters.@*CONCLUSION@#The compound heterozygous c.235delC and IVS1+2T>A mutations of the GJB2 gene probably account for the hearing loss in the two sisters, among which IVS1+2T>A is considered as a novel pathogenic mutation of the GJB2 gene.
Full text:
1
Database:
WPRIM
Main subject:
Pedigree
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DNA Mutational Analysis
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Connexins
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High-Throughput Nucleotide Sequencing
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Genetics
/
Hearing Loss, Sensorineural
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Membrane Proteins
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Mutation
Limits:
Female
/
Humans
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2018
Document type:
Article