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Updated: May 15, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
[SLC26A4 mutations in a Chinese deafness family discovered by next-generation sequencing technology]
Jun Mao1, Xiao-ming Wei, Hong Li
1Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou 215002, China.
Objective:
To identify the molecular etiopathogenesis for a non-syndromic hearing loss patient.
Methods:
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.
Results:
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.
Conclusions:
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.
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Single Nucleotide Polymorphisms-SNPs
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