Usher syndrome: An otoneurologic study

Möller, Claes; Ödkvist, Lars; Kimberling, William J.; Davenport, Sandra L.H.; Priluck, Ira A.; White, Valorie; Biscone-Halterman, K.; Brookhouser, Patrick E.; Lund, Gunnar B.; Grissom, Timothy J.

doi:10.1288/00005537-198901000-00014

Cited by 101 publications

(20 citation statements)

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“…55 Owing to the overlap in the clinical appearances of visual symptoms in types I and II due to considerable variation in age of onset, these symptoms are not considered reliable predictors of USH type in individual cases. 14–16,56 Furthermore, it has been reported that the severity of the visual signs and symptoms does not differ significantly in USH type I and II. 55,57,58 …”

Section: Ush Is Clinically and Genetically Heterogeneousmentioning

confidence: 98%

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Genetics and pathological mechanisms of Usher syndrome

2010

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Usher syndrome (USH) comprises a group of autosomal recessively inherited disorders characterized by a dual sensory impairment of the audiovestibular and visual systems. Three major clinical subtypes (USH type I, USH type II and USH type III) are distinguished on the basis of the severity of the hearing loss, the presence or absence of vestibular dysfunction and the age of onset of retinitis pigmentosa (RP). Since the cloning of the first USH gene (MYO7A) in 1995, there have been remarkable advances in elucidating the genetic basis for this disorder, as evidence for 11 distinct loci have been obtained and genes for 9 of them have been identified. The USH genes encode proteins of different classes and families, including motor proteins, scaffold proteins, cell adhesion molecules and transmembrane receptor proteins. Extensive information has emerged from mouse models and molecular studies regarding pathogenesis of this disorder and the wide phenotypic variation in both audiovestibular and/or visual function. A unifying hypothesis is that the USH proteins are integrated into a protein network that regulates hair bundle morphogenesis in the inner ear. This review addresses genetics and pathological mechanisms of USH. Understanding the molecular basis of phenotypic variation and pathogenesis of USH is important toward discovery of new molecular targets for diagnosis, prevention and treatment of this debilitating disorder.

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Section: Ush Is Clinically and Genetically Heterogeneousmentioning

confidence: 98%

“…14,15 A delay in motor development is the clinical indication of congenital absence of vestibular function. The audiometric configuration is described as ‘residual’ with hearing in the low frequencies being generally preserved.…”

Section: Ush Is Clinically and Genetically Heterogeneousmentioning

confidence: 99%

Genetics and pathological mechanisms of Usher syndrome

2010

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“…The discrepancies may be due, at least in part, to the various criteria for classifying the Usher types [2, 34, 35, 36, 37]. A higher frequency of USII was observed in our sample because most of the Usher families were drawn from the RP Association of the Valencian Community.…”

Section: Discussionmentioning

confidence: 70%

Epidemiology of Usher Syndrome in Valencia and Spain

Espinós

Millán²,

Beneyto³

et al. 1998

Public Health Genomics

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Objective: To obtain epidemiological data on the prevalence of the different types of Usher syndrome (US) in Spain, since these data were missing; to estimate the proportion of sporadic cases among simplex families, and calculate the prevalence of the Usher syndrome in a homogeneous population from Eastern Spain (3,875,234 inhabitants) that is representative of the Spanish population. Methods: Otological, ophthalmological and genetic studies were performed in 89 US patients from 46 families and subjected to statistical and segregation analysis. Results: 41.6% of them suffered US type I, 46.1% type II, and in 12.3% the classification remains unclear. The estimated prevalence for the Province of Valencia was 4.2/100,000. There was a notable excess of male-only affected multiplex sibships in our sample that could be attributable to an X-linked inheritance. Conclusions: The number of families with USI type was similar to that of families with USII type. The estimated prevalence for the Province of Valencia is in agreement with other reports in which the estimate for the prevalence of US ranges from 1.8 to 6.2/100,000.

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“…Three clinical subtypes can be distinguished. USH of type 1 (USH1) is the most severe form, characterized by congenital severe to profound deafness, vestibular dysfunction, and prepubertal onset of the visual loss [2, 6, 7]. USH1 accounts for 30%-40% of USH cases in the European population [2, 4].…”

Section: Introductionmentioning

confidence: 99%

Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome

et al. 2016

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Usher syndrome (USH) is an autosomal recessive disorder characterized by a dual sensory impairment affecting hearing and vision. USH is clinically and genetically heterogeneous. Ten different causal genes have been reported. We studied the molecular bases of the disease in 18 unrelated Algerian patients by targeted-exome sequencing, and identified the causal biallelic mutations in all of them: 16 patients carried the mutations at the homozygous state and 2 at the compound heterozygous state. Nine of the 17 different mutations detected in MYO7A (1 of 5 mutations), CDH23 (4 of 7 mutations), PCDH15 (1 mutation), USH1C (1 mutation), USH1G (1 mutation), and USH2A (1 of 2 mutations), had not been previously reported. The deleterious consequences of a missense mutation of CDH23 (p.Asp1501Asn) and the in-frame single codon deletion in USH1G (p.Ala397del) on the corresponding proteins were predicted from the solved 3D-structures of extracellular cadherin (EC) domains of cadherin-23 and the sterile alpha motif (SAM) domain of USH1G/sans, respectively. In addition, we were able to show that the USH1G mutation is likely to affect the binding interface between the SAM domain and USH1C/harmonin. This should spur the use of 3D-structures, not only of isolated protein domains, but also of protein-protein interaction interfaces, to predict the functional impact of mutations detected in the USH genes.

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Usher syndrome: An otoneurologic study

Cited by 101 publications

References 10 publications

Genetics and pathological mechanisms of Usher syndrome

Genetics and pathological mechanisms of Usher syndrome

Epidemiology of Usher Syndrome in Valencia and Spain

Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome

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