SLC26A4 mutations in a Chinese deafness family discovered by next-generation sequencing technology / 中华耳鼻咽喉头颈外科杂志
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
;
(12): 942-945, 2012.
Article
in Chinese
| WPRIM
| ID: wpr-262440
ABSTRACT
<p><b>OBJECTIVE</b>To identify the molecular etiopathogenesis for a non-syndromic hearing loss patient.</p><p><b>METHODS</b>The core family, consists of the patient and his parents, was recruited. Genomic DNA was extracted from peripheral blood. Mutation analysis was carried out by SNaPshot and next-generation sequencing technology. Mutations in SLC26A4 gene were verified by polymerase chain reaction and direct sequencing.</p><p><b>RESULTS</b>Compound heterozygous mutations p.V306GfsX24 and p.P516PfsX11 in SLC26A4 gene were detected in the patient, heterozygous mutation p.V306GfsX24 was detected in the father, heterozygous mutation p.P516PfsX11 was detected in the mother.</p><p><b>CONCLUSIONS</b>Compound heterozygous mutations p.V306GfsX24 and p.P516PfsX11 contributed to patient's hearing loss. Next-generation sequencing technology is a useful tool for detecting de novo mutations of deafness genes, and is suitable for clinical application.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Membrane Transport Proteins
/
DNA Mutational Analysis
/
Base Sequence
/
Genetic Testing
/
Deafness
/
Asian People
/
Genetics
/
Genetic Carrier Screening
/
Mutation
Limits:
Child
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
Year:
2012
Type:
Article
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