Farber disease in a patient from China.
Am J Med Genet A
; 182(9): 2184-2186, 2020 09.
Article
in En
| MEDLINE
| ID: mdl-32706452
ABSTRACT
Farber disease (FD) is a rare lysosomal storage disorder caused by mutation of the ASAH1 gene. Classic symptoms of FD include subcutaneous nodules, joint pain and hoarseness. Most patients die during childhood. Here we report a 25-year-old female FD patient with rare osteolytic changes of bilateral hands and toes. Genetic analysis revealed novel compound heterozygous mutations in the ASAH1 gene (c.427T>G and c.358G>C). Further research is needed to elucidate the pathophysiological course.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Lysosomal Storage Diseases
/
Genetic Predisposition to Disease
/
Farber Lipogranulomatosis
/
Acid Ceramidase
Limits:
Adult
/
Child
/
Female
/
Humans
Country/Region as subject:
Asia
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2020
Document type:
Article
Affiliation country:
China