ABSTRACT
@#AIM:To analyze the clinical features of a Usher syndrome family and explore the pathogenic gene of the disease. <p>METHODS: A Chinese family with Usher syndrome was involved in our study. After informed consent, careful clinical examinations were taken and 4mL blood were obtained. The whole genome DNA was extracted and target-captured next generation sequencing of the proband was performed to identify suspected mutations. We used Sanger sequencing to verify the detected mutations in all the members of the family, as well as in 100 normal controls. <p>RESULTS: In addition to typical retinitis pigmentosa, the patients suffered from mild to moderate sensorineural deafness. Sequencing results revealed compound heterozygous mutations(c.2310_2311insA and c.8559-2A>G)of <i>USH2A</i> gene in the patients, and either of the mutations was found in normal relatives that had consanguinity with the patients. Both of the mutations were not found in other members of the family and normal individuals. <p>CONCLUSION: <i>USH2A</i> is the pathogenic gene of the disease in this family. The mutation c.8559-2A>G(IVS42)is a previously reported mutation, while the mutation c.2310_2311 insA(p.E771Rfs*8)is a novel mutation. The study has expanded the mutation spectrum of <i>USH2A</i> gene resulting in Usher syndrome.
ABSTRACT
Usher syndrome (USH) is the most common syndromic retinitis pigmentosa (RP),which is an autosomal recessive disorder.RP is highly clinically and genetically heterogeneous.A total of 12 loci including nine genes have been identifiedas causing various clinical subtypes of USH.The USH2A gene is thought to be involved in the pathogenesis of most USH2 cases.Moreover,mutations of the USH2A gene is also responsible for atypical USH and nonsyndromic retinitis pigmentosa.Some studies found that the mutation spectrum among Chinese RP patients might differ from European Caucasians.Herein,the further survey should be performed to ascertain the hot gene mutation spectrum.