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A mutation causing Alport syndrome with tardive hearing loss is common in the western United States.

ABSTRACT: Mutations in the COL4A5 gene, located at Xq22, cause Alport syndrome (AS), a nephritis characterized by progressive deterioration of the glomerular basement membrane and usually associated with progressive hearing loss. We have identified a novel mutation, L1649R, present in 9 of 121 independently ascertained families. Affected males shared the same haplotype of eight polymorphic markers tightly linked to COL4A5, indicating common ancestry. Genealogical studies place the birth of this ancestor >200 years ago. The L1649R mutation is a relatively common cause of Alport syndrome in the western United States, in part because of the rapid growth and migratory expansion of mid-nineteenth-century pioneer populations carrying the gene. L1649R affects a highly conserved residue in the NC1 domain, which is involved in key inter- and intramolecular interactions, but results in a relatively mild disease phenotype. Renal failure in an L1649R male typically occurs in the 4th or 5th decade and precedes the onset of significant hearing loss by approximately 10 years.

SUBMITTER: Barker DF

PROVIDER: S-EPMC1915056 | biostudies-other | 1996 Jun

REPOSITORIES: biostudies-other

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A mutation causing Alport syndrome with tardive hearing loss is common in the western United States.

Barker D F DF Pruchno C J CJ Jiang X X Atkin C L CL Stone E M EM Denison J C JC Fain P R PR Gregory M C MC

American journal of human genetics 19960601 6

Mutations in the COL4A5 gene, located at Xq22, cause Alport syndrome (AS), a nephritis characterized by progressive deterioration of the glomerular basement membrane and usually associated with progressive hearing loss. We have identified a novel mutation, L1649R, present in 9 of 121 independently ascertained families. Affected males shared the same haplotype of eight polymorphic markers tightly linked to COL4A5, indicating common ancestry. Genealogical studies place the birth of this ancestor > ...[more]

PMID: 8651292

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Project description:ObjectiveTo characterize current awareness, perceptions, and literacy surrounding hearing loss among the adult population in the United States.Study designNational cross-sectional survey study.SettingUnited States.PatientsAdults between 50 and 80 years of age in the United States.ResultsSurvey respondents included 1,250 adults between the ages of 50 and 80 years, including 500 who indicated at least moderate hearing loss and were using hearing aids and 750 who denied having hearing loss and were not using hearing aids.Only 9% of patients were able to correctly identify what constitutes a "normal" or "average" range for hearing. By comparison, a "normal" range of values for vision, blood pressure, and total cholesterol were identified correctly by 93%, 85%, and 52% of the 1,250 surveyed adults, respectively. When asked to rank the importance of addressing hearing loss within the context of 10 other common health conditions, hearing loss was ranked third to least important. When considering annual health maintenance, respondents indicated they were "very likely" to have an annual physical exam (72%), a cholesterol test (70%), an eye exam (66%), and bring their pet to a veterinarian (59%) over twice as frequently as having their hearing evaluated (27%).When evaluating awareness surrounding associations between hearing loss and other health and social issues, less than one-fourth indicated strong awareness about links between hearing loss and depression, employability and income, fall risk, dementia, and type 2 diabetes. While most patients acknowledge the potential impacts of hearing loss on safety, quality of life, and health, less than half believe that hearing loss is treatable and less than 20% believe that hearing loss is preventable.ConclusionDespite widespread literacy of what constitutes normal vision, blood pressure, and total cholesterol levels, respondents exhibit substantially poorer understanding of "normal" hearing levels. Most adults believe that few treatment options exist for the management of hearing loss. Underlying the uniformly limited literacy surrounding hearing loss and its treatment options is the adult population's lack of appreciation for the long-term health sequelae of untreated hearing loss.

Project description:BackgroundTardive dyskinesia (TD) is a movement disorder resulting from treatment with typical and atypical antipsychotics. An estimated 16-50% of patients treated with antipsychotics have TD, but this number may be underestimated. The objectives of this study were to build an algorithm for use in electronic health records (EHRs) for the detection and characterization of TD patients, and to estimate the prevalence of TD in a population of patients exposed to antipsychotic medications.MethodsThis retrospective observational study included patients identified in the Optum EHR Database who received a new or refill prescription for an antipsychotic medication between January 2011 and December 2015 (follow-up through June 2016). TD mentions were identified in the natural language-processed clinical notes, and an algorithm was built to classify the likelihood that the mention represented documentation of a TD diagnosis as probable, possible, unlikely, or negative. The final TD population comprised a subgroup identified using this algorithm, with ≥1 probable TD mention (highly likely TD).Results164,417 patients were identified for the antipsychotic population, with1,314 comprising the final TD population. Conservatively, the estimated average annual prevalence of TD in patients receiving antipsychotics was 0.8% of the antipsychotic user population. The average annual prevalence may be as high as 1.9% per antipsychotic user per year, allowing for a more-inclusive algorithm using both probable and possible TD. Most TD patients were prescribed atypical antipsychotics (1049/1314, 79.8%). Schizophrenia (601/1314, 45.7%), and paranoid and schizophrenia-like disorders (277/1314, 21.1%) were more prevalent in the TD population compared with the entire antipsychotic drug cohort (13,308/164,417; 8.1% and 19,359/164,417; 11.8%, respectively).ConclusionsDespite a lower TD prevalence than previously estimated and the predominant use of atypical antipsychotics, identified TD patients appear to have a substantial comorbidity burden that requires special treatment and management consideration.

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A mutation causing Alport syndrome with tardive hearing loss is common in the western United States.

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A mutation causing Alport syndrome with tardive hearing loss is common in the western United States.

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