{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T09:12:43Z","timestamp":1762161163644,"version":"3.37.3"},"reference-count":30,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,2,23]],"date-time":"2015-02-23T00:00:00Z","timestamp":1424649600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 HL071225"],"award-info":[{"award-number":["R01 HL071225"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000968","name":"American Heart Association","doi-asserted-by":"publisher","award":["14PRE18070007"],"award-info":[{"award-number":["14PRE18070007"]}],"id":[{"id":"10.13039\/100000968","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":[[2015,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Idiopathic dilated cardiomyopathy is a heritable, genetically heterogeneous disorder characterized by progressive heart failure. Dilated cardiomyopathy typically exhibits autosomal dominant inheritance, yet frequently remains clinically silent until adulthood. We sought to discover the molecular basis of idiopathic, non\u2010syndromic dilated cardiomyopathy in a one\u2010month\u2010old male presenting with severe heart failure. Previous comprehensive testing of blood, urine, and skin biopsy specimen was negative for metabolic, mitochondrial, storage, and infectious etiologies. Ophthalmologic examination was normal. Chromosomal microarray and commercial dilated cardiomyopathy gene panel testing failed to identify a causative mutation. Parental screening echocardiograms revealed no evidence of clinically silent dilated cardiomyopathy. Whole exome sequencing was carried out on the family trio on a research basis, filtering for rare, deleterious, recessive and de novo genetic variants. Pathogenic compound heterozygous truncating mutations were identified in <jats:italic>ALMS1<\/jats:italic>, diagnostic of Alstr\u00f6m syndrome and prompting disclosure of genetic findings. Alstr\u00f6m syndrome is a known cause for dilated cardiomyopathy in children yet delayed and mis\u2010diagnosis are common owing to its rarity and age\u2010dependent emergence of multisystem clinical manifestations. At six months of age the patient ultimately developed bilateral nystagmus and hyperopia, features characteristic of the syndrome. Early diagnosis is guiding clinical monitoring of other organ systems and allowing for presymptomatic intervention. Furthermore, recognition of recessive inheritance as the mechanism for sporadic disease has informed family planning. This case highlights a limitation of standard gene testing panels for pediatric dilated cardiomyopathy and exemplifies the potential for whole exome sequencing to solve a diagnostic dilemma and enable personalized care. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36994","type":"journal-article","created":{"date-parts":[[2015,2,23]],"date-time":"2015-02-23T10:13:55Z","timestamp":1424686435000},"page":"886-890","source":"Crossref","is-referenced-by-count":25,"title":["Exome sequencing establishes diagnosis of Alstr\u00f6m syndrome in an infant presenting with non\u2010syndromic dilated cardiomyopathy"],"prefix":"10.1002","volume":"167","author":[{"given":"Pamela A.","family":"Long","sequence":"first","affiliation":[{"name":"Mayo Graduate School, Molecular Pharmacology and Experimental Therapeutics Track Mayo Clinic Rochester Minnesota"},{"name":"Cardiovascular Genetics Research Laboratory Mayo Clinic Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jared M.","family":"Evans","sequence":"additional","affiliation":[{"name":"Division of Biomedical Statistics and Informatics Department of Health Sciences Research Mayo Clinic Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy M.","family":"Olson","sequence":"additional","affiliation":[{"name":"Cardiovascular Genetics Research Laboratory Mayo Clinic Rochester Minnesota"},{"name":"Division of Pediatric Cardiology Department of Pediatric and Adolescent Medicine Mayo Clinic Rochester Minnesota"},{"name":"Division of Cardiovascular Diseases Department of Internal Medicine Mayo Clinic Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,2,23]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11632"},{"key":"e_1_2_5_3_1","first-page":"1","article-title":"Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: A specific syndrome (not hitherto described) distinct from the Laurence\u2010Moon\u2010Bardet\u2010Biedl syndrome: A clinical endocrinological and genetic examination based on a large pedigree","volume":"129","author":"Alstr\u00f6m CH","year":"1959","journal-title":"Acta Psychiatr Neurol Sc and Suppl"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(97)00433-6"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3555"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2009.12.008"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.healun.2013.08.005"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1181498"},{"key":"e_1_2_5_10_1","unstructured":"Exome Variant Server NHLBI GO Exome Sequencing Project (ESP) Seattle WA.http:\/\/evs.gs.washington.edu\/EVS\/Updated August 18 2014. 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