Gaucher disease


What is the genetic cause of Gaucher disease?

A pathogenetic variant (historically referred to as mutations) in the GBA gene cause Gaucher disease. The GBA gene is located on chromosome 1 on the long arm at region 2 band 1 (1q21). There are 300 different mutation that have been discovered in the GBA gene.

  • Gaucher disease type 1. [Internet]. Online Mendelian Inheritance in Man [updated March 28, 2013].Available from:
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What does my gene mutation for Gaucher mean?

What does my gene mutation for Gaucher mean?

Different genetic mutations may lead to difference in severity and presentation of Gaucher disease, though the correlation is often imperfect. At present the exact genetic factors that influence disease severity or progression are not known.

In general, affected individuals who have two copies of a mutation called N370S tend to have milder disease than those who have one copy of the N370S mutation and another mutation- but remember, this is a general rule of thumb and not an absolute. Individuals with at least one copy of the N370S mutation have type 1 Gaucher disease. Individuals who have two copies of a mutation called L444P tend to have severe disease, often with neurologic complications (i.e., types 2 and 3 Gaucher disease).

  • Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, Tayebi N, Sidransky E. Analysis and classification of 304 mutant alleles in patients with Type 1 and Type 3 Gaucher disease. Am J Hum Genet. 2000;66:1777-86.

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