Farber disease in a patient from China.,American Journal of Medical Genetics Part A

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Farber disease in a patient from China.
American Journal of Medical Genetics Part A ( IF 1.7 ) Pub Date : 2020-07-24 , DOI: 10.1002/ajmg.a.61752
Xudong Bao ₁ , Mingsheng Ma ₂ , Zhenjie Zhang ₂ , Yiwen Xu ₂ , Zhengqing Qiu ₂

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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.

更新日期：2020-08-15

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