Farber disease in a patient from China | Zendy

Bao Xudong | Zendy; Ma Mingsheng | Zendy; Zhang Zhenjie | Zendy; Xu Yiwen | Zendy; Qiu Zhengqing | Zendy

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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

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.

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