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Farber disease in a patient from China
Author(s) -
Bao Xudong,
Ma Mingsheng,
Zhang Zhenjie,
Xu Yiwen,
Qiu Zhengqing
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61752
Subject(s) - medicine , pathophysiology , disease , mutation , compound heterozygosity , genetic disorder , rare disease , joint pain , gene , pediatrics , pathology , dermatology , genetics , surgery , biology
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.