Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B

► We designed a 0.60 MB array-based chip for human deafness. ► We used NGS to investigate nuclear and mitochondrial genome for hearing loss. ► We sequenced patients with known mutations to prove the sensitivity of the method. ► We identified compound heterozygosity for two novel mutations in gene MYO7A.