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Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.
Kim, Soo Yeon; Choi, Sun Ah; Lee, Sangmoon; Lee, Jin Sook; Hong, Che Ry; Lim, Byung Chan; Kang, Hyoung Jin; Kim, Ki Joong; Park, Sung-Hye; Choi, Murim; Chae, Jong-Hee.
Affiliation
  • Kim SY; Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Choi SA; Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Lee S; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
  • Lee JS; Department of Pediatrics, Gachon University Gil Medical Center, Incheon, Korea.
  • Hong CR; Department of Pediatrics, Cancer Research Institute, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea.
  • Lim BC; Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Kang HJ; Department of Pediatrics, Cancer Research Institute, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea.
  • Kim KJ; Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Park SH; Department of Pathology, Seoul National University, College of Medicine, Seoul, Korea.
  • Choi M; Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Chae JH; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
Am J Med Genet A ; 170(11): 3023-3027, 2016 11.
Article in En | MEDLINE | ID: mdl-27411168
Farber disease is a very rare autosomal recessive disease caused by mutation of ASAH1 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-exome sequencing, we identified the compound heterozygote missense mutations of ASAH1 (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 ASAH1, which pose a diagnostic challenge. We also discuss the clinical utility of whole-exome sequencing for diagnosis of ultra-rare diseases. © 2016 Wiley Periodicals, Inc.
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Full text: 1 Database: MEDLINE Main subject: Phenotype / Farber Lipogranulomatosis / Acid Ceramidase / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Infant / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2016 Type: Article

Full text: 1 Database: MEDLINE Main subject: Phenotype / Farber Lipogranulomatosis / Acid Ceramidase / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Infant / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2016 Type: Article