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Rationale: Molecular mechanism underlying the autosomal recessive non-syndromic hearing loss (ARNSHL) is still plausible. Pathogenic mutations of the gap junction beta 2 protein (GJB2) are reported to be the primary causes of ARNSHL. Patient concerns: A propositus was diagnosed as ARNSHL with bilateral congenital profound hearing loss. Diagnosis: With microarray and target gene sequencing testing methods, a novel GJB2 mutant was found to be associated with ARNSHL in this Han Chinese family. Interventions/Outcomes: Based on the finding in this research, prenatal screening of GJB2 mutation and genetic counseling are recommended to this family for their next pregnancy. Our interventions allow the family to plan informatively. Lessons: In this family, we discovered 2 heterozygous carriers of c.113T>C variation in the GJB2 gene. The propositus, who had profound hearing loss, had inherited the c.113T>C variation from his normal mother and the c.235delC from his father.

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IntroductionThis study explored the application of bacterial artificial chromosomes (BACs)-on-Beads (BoBs) technique, especially its ability to detect microdeletion/microduplication regions with a single probe.Material and methodsBoth chromosome karyotyping and BoBs technique were applied on a total of 2218 pregnant women. Chromosome microarray analysis (CMA) was performed on patients whose cells were reported as being abnormal by BoBs technique with a single probe.ResultsTwenty-two cases were detected as microdeletion/microduplication with a single probe, which was consistent with the CMA results.ConclusionsWe believe that the microdeletion/microduplication results detected by BoBs technique with a single probe provide comprehensive guidance for prenatal diagnosis.