Farber disease in a patient from China

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...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2020-09, Vol.182 (9), p.2184-2186
Main Authors: Bao, Xudong, Ma, Mingsheng, Zhang, Zhenjie, Xu, Yiwen, Qiu, Zhengqing
Format: Article
Language:English
Subjects:
adult
Arthralgia
ASAH1 mutation
Children
Farber disease
Genetic analysis
Mutation
Nodules
Osteolysis
osteolytic change
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.61752