{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:53:27Z","timestamp":1790679207168,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,7,13]],"date-time":"2016-07-13T00:00:00Z","timestamp":1468368000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Korea Health Industry Development Institute (KHIDI), Ministry for Health & Welfare, Republic of Korea","award":["HI12C0066"],"award-info":[{"award-number":["HI12C0066"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>Farber disease is a very rare autosomal recessive disease caused by mutation of <jats:italic>ASAH1<\/jats:italic> that results in the accumulation of ceramide in various tissues. Clinical symptoms of classic Farber disease comprise painful joint deformity, hoarseness of voice, and subcutaneous nodules. Here, we describe a patient with Farber disease with atypical presentation of early onset hypotonia, sacral mass, congenital heart disease, and dysmorphic face since birth. Severe cognitive disability, failure to gain motor skills, failure to thrive, and joint contractures developed. Using whole\u2010exome sequencing, we identified the compound heterozygote missense mutations of <jats:italic>ASAH1<\/jats:italic> (p.R333C and p.G235R). Because of the diagnostic delay, she underwent sacral mass excision, which revealed enlarged lysosomes and zebra bodies. We report an atypical presentation of Farber disease with her pathology and associated genetic defect. This case expands the phenotypic spectrum of Farber disease to include novel mutations of <jats:italic>ASAH1<\/jats:italic>, which pose a diagnostic challenge. We also discuss the clinical utility of whole\u2010exome sequencing for diagnosis of ultra\u2010rare diseases. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37846","type":"journal-article","created":{"date-parts":[[2016,7,13]],"date-time":"2016-07-13T16:34:47Z","timestamp":1468427687000},"page":"3023-3027","source":"Crossref","is-referenced-by-count":14,"title":["Atypical presentation of infantile\u2010onset farber disease with novel <i>ASAH1<\/i> mutations"],"prefix":"10.1002","volume":"170","author":[{"given":"Soo Yeon","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital Seoul National University College of Medicine Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sun Ah","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital Seoul National University College of Medicine Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sangmoon","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences Seoul National University College of Medicine Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin Sook","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gachon University Gil Medical Center Incheon Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Che Ry","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cancer Research Institute, Seoul National University College of Medicine Seoul National University Children's Hospital Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byung Chan","family":"Lim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital Seoul National University College of Medicine Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyoung Jin","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cancer Research Institute, Seoul National University College of Medicine Seoul National University Children's Hospital Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ki Joong","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital Seoul National University College of Medicine Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung\u2010Hye","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Pathology, Seoul National University College of Medicine Seoul 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