Prenatal diagnosis of a novel SOX10 mutation in a patient with syndromic hearing loss

Objective To explore the genetic basis for a patient with syndromic hearing loss. Methods Genomic DNA of the patient was extracted, for which 127 deafness-related genes were enriched with a chip. Following next generation sequencing, pathogenic loci in exonic regions were analyzed through comparison against the databases. Genotype of her fetus for the suspected site was determined using amniotic fluid sample. qPCR method was applied to verify the deletion of a large fragment. Results The proband was diagnosed with Waardenburg syndrome type 2 and harbored a novel heterozygous deletion of the exon 3 and exon 4 in the SOX10 gene. Her fetus was found to have the same deletion and presented with blue eyes and deafness after birth. Conclusion Waardenburg syndrome type 2 due to SOX10 gene deletion features autosomal dominant inheritance with incomplete penetrance. The deletion of SOX10 exons 3 and 4 probably underlies the disease in this family. Key words: Deafness; Waardenburg syndrome; Genetic diagnosis; Genetic consulting