• Xinqiang Lan, Shiyu Sun, Xin Lan, Linyuan Niu, Chunxiao Zhang, Xiaoli Chen, and Ningning Xia.
• Department of Medical Genetics, Weihai Maternity and Child Care Hospital.
• Medicine (Baltimore). 2019 Dec 1; 98 (50): e18253.

RationaleMolecular 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 ConcernsA propositus was diagnosed as ARNSHL with bilateral congenital profound hearing loss.DiagnosisWith microarray and target gene sequencing testing methods, a novel GJB2 mutant was found to be associated with ARNSHL in this Han Chinese family.Interventions/OutcomesBased 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.LessonsIn 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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