The Usher syndrome is an autosomal recessive disorder that cause bilateral sensorineural hearing loss and progressive loss of vision. It is genetically heterogeneous and is the most frequent cause of hereditary deafness and blindness in human. There are three types of Usher syndrome that can be distinguished clinically and into different subtypes. Type 2 Usher syndrome is the most common form and less severe than Type 1. It is characterized by congenital, moderate to severe, high frequency sloping hearing loss, retinitis pigmentosa which is typically diagnosed in late adolescence, and normal vestibular function. Recently, we have experienced a case of clinically diagnosed Type 2 Usher syndrome in a 34 years old female. We report this case with a brief review of literature. This is the first Type 2 Usher Syndrome to be reported in the otolaryngologic field in Korea.
Adolescent ; Blindness ; Deafness ; Female ; Hearing Loss ; Hearing Loss, Sensorineural ; Humans ; Retinitis Pigmentosa ; Usher Syndromes ; Vision, Ocular

The usher syndrome (US) is an autosomal recessive disorder characterized by congenital bilateral sensorineural hearing loss and progressive visual loss secondary to retinitis pigmentosa. It is the most common cause of the hereditary combined deafness-blindness in the western world. Three different types of US are recognized by clinical criteria. The US type I has severe to profound hearing loss, vestibular dysfunction, and prepubertally diagnosed retinitis pigmentosa, while the US type II has moderate to severe hearing loss, normal vestibular function, and later onset of retinitis pigmentosa. The US type III has a progressive hearing loss and retinitis pigmentosa with variable vestibular involvement. The diagnosis is confirmed by medical history and thorough otoscopical, audiologic, vestibular, and ophthalmological examinations. We have recently experienced a case of the US type I and report this with a brief review of the related literature.
Deaf-Blind Disorders ; Diagnosis ; Hearing Loss ; Hearing Loss, Sensorineural ; Retinitis Pigmentosa ; Usher Syndromes* ; Western World

Ushers syndrome is an autosomal recessively inherited entity which is characterized by a retinitis pigmentosa and congenital sensorineural hearing loss. This syndrome represents different clinical features according to its subtypes. We experienced one case of type 1 Ushers syndrome, who had congenital hearing loss, visual field loss, visual loss of early childhood onset. We performed bilateral cataract extraction. Fundus examination after operation showed characteristic findings of retinitis pigmentosa. ERG was non-recordable ERG. Her audiogram confirmed the bilateral sensorineural hearing loss.
Cataract Extraction ; Cataract* ; Hearing Loss ; Hearing Loss, Sensorineural ; Retinitis Pigmentosa ; Usher Syndromes* ; Visual Fields

OBJECTIVE: To explore the genetic basis for a pedigree affected with congenital sensorineural deafness. METHODS: High-throughput sequencing was carried out to analyze the coding regions of 415 genes associated with hereditary deafness in the proband. Suspected variants were verified by PCR amplification and Sanger sequencing of her parents and sister. RESULTS: The proband was found to have carried a heterozygous c.5131G>A (p.Val1711Ile) variant of the CDH23 gene and a heterozygous c.2884C>T(p.Arg962Cys) variant of the PCDH15 gene, which were respectively inherited from her mother and father. Her sister (with normal hearing) was also heterozygous for the c.5131G>A (p.Val1711Ile) variant of the CDH23 gene but not the c.2884C>T (p.Arg962Cys) variant of the PCDH15 gene. Based on the guidelines of the American College of Medical Genetics and Genomics, both variants were predicted to be likely pathogenic (PS1+PM2+PP3+PP4). CONCLUSION The c.5131G>A (p.Val1711Ile) variant of the CDH23 gene and c.2884C>T (p.Arg962Cys) variant of the PCDH15 gene probably underlay the pathogenesis of Usher syndrome type 1D/F in this pedigree.
Female ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Pedigree ; Usher Syndromes/genetics*

OBJECTIVE: To detect pathogenic variant in a child featuring Usher syndrome type II. METHODS: Peripheral blood samples of the child and his parents were collected for the analysis of variants of hearing impairment-related genes. The findings were verified in 100 individuals with normal hearing. RESULTS: The child was found to harbor compound heterozygous variants of the USH2A gene, namely c.8224-1G>C in intron 41 and c.5678C>G(p.Ser1893X) in exon 28, which were inherited respectively from his mother and father. Based on the American College of Medical Genetics and Genomics standards and guidelines, both c.8224-1G>C and c.5678C>G(p.Ser1893X) variants of USH2A gene were predicted to be pathogenic(PVS1+PM2+PM3). CONCLUSION The compound heterozygous variants c.8224-1G>C and c.5678C>G of the USH2A gene probably underlay the disease in this child. Above finding has enriched the spectrum of USH2A gene variants.
Child ; Exons ; Extracellular Matrix Proteins/genetics* ; Family ; Humans ; Introns ; United States ; Usher Syndromes/genetics*

Usher syndrome type II (USH2) is the most common form of Usher syndrome, characterized by moderate to severe hearing impairment and progressive visual loss due to retinitis pigmentosa. It has been shown that mutations in the USH2A gene are responsible for USH2. The authors herein describe a 34-year-old Korean woman with the typical clinical manifestation of USH2; she had bilateral hearing disturbance and progressive visual deterioration, without vestibular dysfunction. Molecular genetic study of the USH2A gene revealed a novel frameshift mutation (c.2310delA; Glu771LysfsX17). She was heterozygous for this mutation, and no other mutation was found in USH2A, suggesting the possibility of an intronic or large genomic rearrangement mutation. To the best of our knowledge, this is the first report of a genetically confirmed case of USH2 in Korea. More investigations are needed to delineate genotype-phenotype correlations and ethnicity-specific genetic background of Usher syndrome.
Female ; Frameshift Mutation ; Genetic Association Studies ; Hearing ; Hearing Loss ; Humans ; Introns ; Korea ; Molecular Biology ; Retinitis Pigmentosa ; Usher Syndromes

Usher's syndrome is an autosomal recessively inherited trait that characterized by a congenital nonprogressive sensorineural hearing impairment and progressive night-blinding disorder, retinitis pigmentosa, with cataract, psych psis, speech disorder, mental deficiency, and vestibular ataxia being variable additional findings. We experienced two cases of Usher's syndrome in two brothers, which has the hearing loss and night-blinding disorder that had been developed since in early childhood and 2nd decade respectively. Their ophthalmoscopic retinal and ERG findings are characteritic ones of retinitis pigmentosa. such as 1) bone corpuscle pigmentation in the periphery, narrow arteries, and a waxy, yellowish optic, disc, 2) non-recordable ERG, respectively. Their pure tone automatry confirmed the bilateral sensorineural hearing loss.
Arteries ; Ataxia ; Cataract ; Hearing Loss ; Hearing Loss, Sensorineural ; Humans ; Mental Disorders ; Pigmentation ; Retinaldehyde ; Retinitis Pigmentosa ; Siblings* ; Usher Syndromes

OBJECTIVE: To analyze the clinical features and genetic variant in a patient with Usher syndrome. METHODS: Whole exome sequencing was carried out for the patient. Suspected variants were validated by Sanger sequencing of her parents and fetus. RESULTS: The proband was found to harbor compound heterozygous variants c.17_18insA (p.Tyr6Ter*) and c.4095_4096insA (p.Arg1366Lys fs*38) of the PCDH15 gene (NM_033056), which were respectively inherited from her father and mother. The same variants were not detected in 100 healthy controls. Based on the guidelines of the American Society of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+PM2+PP4). By prenatal diagnosis, her fetus was found to carry the c.4095_4096insA variant. After birth, the child has passed neonatal hearing screening test, and no abnormal auditory and visual function was found after the first year. CONCLUSION The compound heterozygous variants c.17_18insA (p.Tyr6Ter*) and c.4095_4096insA (p.Arg1366Lys fs*38) of the PCDH15 gene probably underlay the Usher syndrome is this proband.
Cadherin Related Proteins ; Cadherins/genetics* ; Child ; China ; Female ; Genetic Testing ; Humans ; Infant, Newborn ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Usher Syndromes/genetics*

Objective: To investigate the variation of genes associated with Usher syndrome type 1(USH1)in 136 Chinese deafness families from Henan province. Methods: The data of 136 deafness families tested by next-generation sequencing(NGS) which identified in the center of genetics and prenatal diagnosis of the First Affiliated Hospital of Zhengzhou University from November 2016 to December 2019 were analysized and the variation frequency of six genes related to Usher syndrome type 1(MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2) were summarized. Results: Five deafness families were detected nine pathogenic or likely pathogenic variations in two genes, accounting for 3.7% of all families. Among them, four families were caused by MYO7A variations and one family was caused by CDH23 variation. Meanwhile, seven variations of two genes were reported for the first time. They were c.313delG, c.5257dupA, c.5435A>T, c.5636G>C, c.5722T>G of MYO7A, and c.155_166del, c.4802delA of CDH23. The patients' vision of family 2 and family 3 had no obvious abnormality at present, but according to genetic diagnosis and walking dealy, they were considered to be USH1. Conclusions: MYO7A is the most common caustive gene associated with USH1 in Henan deafness patients, the application of next-generation sequencing technology can make USH1 patients diagnosed earlier before the visual symptoms appear.
China/epidemiology* ; DNA Mutational Analysis ; Deafness/genetics* ; Humans ; Mutation ; Myosin VIIa ; Myosins/genetics* ; Pedigree ; Usher Syndromes/genetics*

Ushers syndrome is an autosomal recessively inherited trait that characterized by progressive retinitis pigmentosa combining night blindness with a congenital, nonprogressive sensorineural hearing impairment of variable severity. Speech disorder, vestibular ataxia, mental deficiency, psychosis, and cataract are usually present. We experienced a case of type IV Ushers syndrome in 28 year-old woman that showed the night blindness with decreased visual acuity that had been developed 7-8 years before and congenital sensorineural hearing loss. In fundoscopic examination, characteristic bone corpuscle pigmentation in the periphery, and narrow arteries are found. Her electroretinogram and pure tone audiometric findings show non recordable wave forms and bilateral sensorineural hearing loss. She has mild mental retardation also.
Adult ; Arteries ; Ataxia ; Cataract ; Female ; Hearing Loss ; Hearing Loss, Sensorineural ; Humans ; Intellectual Disability ; Night Blindness ; Pigmentation ; Psychotic Disorders ; Retinitis Pigmentosa ; Usher Syndromes* ; Visual Acuity