Identification Of CDH23 Mutation In A Family With Usher Syndrome

Objective:1. To establish standard phenotypic characteristics database and DNA database for a Usher syndrome family, and study the phenotypic characteristics and clinical type in the Usher syndrome family.2. To and identify the pathogenic mutation?s? using target region sequencing technology.Methods:1. Collection of clinical data of Usher syndrome family:medical history and family history of the family members were collected in details. A pedigree figure was drawn. Ophthalmologic examinations were performed in the members. The examinations included BCVA, IOP, biomicroscopy of the anterior eye segment, color photo of fundus, OCT and ERG. In addition, audiometric tests and vestibular function tests, including pure tone audiometry, tympanometry. And also finger- nose test and Romberg test were performed.2. Peripheral venous blood samples were required from each individual to build up a DNA database for the Usher syndrome family. The target region of the USH gene was sequenced to check if there exist some pathogenic gene mutations in this patient.3. Then the further study were performed using Sanger Sequencing on the other family members in terms of those related pathogenic gene mutations.Results:1. The phenotypic characteristics database and DNA database of Usher syndrome family was scientifically and standardly established.2. A clinical diagnosis of Usher syndrome type 1 was made based on the clinical features of the two patients??:1 ?:4?. The other members of the family did not show the characteristics of the disease. USH was autosomal recessive inherited in this Usher syndrome family.3. Two novel compound heterozygous mutations ?c.6253G>A and c.287₂88insG? of CDH23 were identified in the patient. And all the family members who have a blood relations to the patient were shown the genotype in accordance with the rules of Usher syndrome, which was inherited in a pattern of the human monogenic diseases.Conclusion:1. The family in our study is an autosomal recessive Usher syndrome family, and the clinical diagnosis is Usher syndrome type 1.2. In this patient, two novel compound heterozygous mutations c.6253G>A and c.287₂88insG were founded, and CDH23 may be the pathogenic gene of Usher syndrome family.