{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T07:36:29Z","timestamp":1770276989193,"version":"3.49.0"},"reference-count":30,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2017,6,1]],"date-time":"2017-06-01T00:00:00Z","timestamp":1496275200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["Z99 HG999999"],"award-info":[{"award-number":["Z99 HG999999"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["DC000064"],"award-info":[{"award-number":["DC000064"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000098","name":"NIH Clinical Center","doi-asserted-by":"publisher","award":["HD36878"],"award-info":[{"award-number":["HD36878"]}],"id":[{"id":"10.13039\/100000098","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>Alstr\u00f6m syndrome (AS) is a rare autosomal recessive ciliopathy caused by mutations in the <jats:italic>ALMS1<\/jats:italic> gene. Hallmark characteristics include childhood onset of severe retinal degeneration, sensorineural hearing loss, obesity, insulin\u2010resistant diabetes, and cardiomyopathy. Here we comprehensively characterize the auditory and otologic manifestations in a prospective case series of 38 individuals, aged 1.7\u201337.9 years, with genetically confirmed AS. Hearing loss was preceded by retinal dystrophy in all cases, and had an average age of detection of 7.45 years (range 1.5\u201315). Audiometric assessments showed mean pure tone averages (0.5, 1, 2, 4\u2009kHz) of 48.6 and 47.5\u2009dB HL in the right and left ears, respectively. Hearing was within normal limits for only 8\/74 ears (11%). For the 66 ears with hearing loss, the degree was mild (12%), moderate (54%), or severe (8%). Type of hearing loss was predominantly sensorineural (77%), while three ears had mixed loss, no ears had conductive loss, and type of hearing loss was indeterminate for the remaining 12 ears. Serial audiograms available for 33 patients showed hearing loss progression of approximately 10\u201315\u2009dB\/decade. Our data show that hearing loss associated with AS begins in childhood and is a predominantly symmetric, sensory hearing loss that may progress to a severe degree. Absent otoacoustic emissions, intact speech discrimination, and disproportionately normal auditory brainstem responses suggest an outer hair cell site of lesion. These findings indicate that individuals with AS would benefit from sound amplification and if necessary, cochlear implantation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38316","type":"journal-article","created":{"date-parts":[[2017,6,2]],"date-time":"2017-06-02T03:18:46Z","timestamp":1496373526000},"page":"2210-2218","source":"Crossref","is-referenced-by-count":20,"title":["Auditory and otologic profile of Alstr\u00f6m syndrome: Comprehensive single center data on 38 patients"],"prefix":"10.1002","volume":"173","author":[{"given":"Spencer","family":"Lindsey","sequence":"first","affiliation":[{"name":"Department of Otolaryngology\u2014Head and Neck Surgery Georgetown University Hospital Washington, D.C."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1462-049X","authenticated-orcid":false,"given":"Carmen","family":"Brewer","sequence":"additional","affiliation":[{"name":"Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders National Institutes of Health Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga","family":"Stakhovskaya","sequence":"additional","affiliation":[{"name":"Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders National Institutes of Health Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hung Jeffrey","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2014Head and Neck Surgery Georgetown University Hospital Washington, D.C."},{"name":"Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders National Institutes of Health Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chris","family":"Zalewski","sequence":"additional","affiliation":[{"name":"Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders National Institutes of Health Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joy","family":"Bryant","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelly A.","family":"King","sequence":"additional","affiliation":[{"name":"Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders National Institutes of Health Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00fcrgen K.","family":"Naggert","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory Bar Harbor Maine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health Bethesda Maryland"},{"name":"NIH Undiagnosed Diseases Program, Common Fund, Office of the Director National Institutes of Health Bethesda Maryland"},{"name":"Office of the Clinical Director, National Human Genome Research Institute National Institutes of Health Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan D.","family":"Marshall","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory Bar Harbor Maine"},{"name":"Alstr\u00f6m Syndrome International Bar Harbor Maine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meral","family":"Gunay\u2010Aygun","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health Bethesda Maryland"},{"name":"Office of the Clinical Director, National Human Genome Research Institute National Institutes of Health Bethesda Maryland"},{"name":"Johns Hopkins University School of Medicine Department of Pediatrics and McKusick\u2010Nathans Institute of Genetic Medicine Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,6]]},"reference":[{"issue":"129","key":"e_1_2_8_2_1","first-page":"1","article-title":"Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness. A specific syndrome (not hitherto described) distinct from Laurence\u2013Moon\u2013","volume":"34","author":"Alstr\u00f6m C. H.","year":"1959","journal-title":"Acta Psychiatrica Et Neurologica Scandinavica"},{"key":"e_1_2_8_3_1","first-page":"171","article-title":"Alstr\u00f6m syndrome: Current perspectives","volume":"8","author":"\u00c1lvarez\u2010Satta M.","year":"2015","journal-title":"The Application of Clinical Genetics"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.5935\/1808-8694.20140023"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-24"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390051133"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng867"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0037925"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2014.06.034"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1044\/jshr.3802.490"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0109540"},{"key":"e_1_2_8_12_1","unstructured":"FlorentzsonR Hall\u00e9nK M\u00f6llerC.(2010). 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