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Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.

Abstract：

:The efficacy of pharmacological chaperone therapy for Fabry disease depends on the type of α-galactosidase A (GLA) mutations. Here, we examined the mutation spectrum of the GLA gene among patients from 115 Japanese families with Fabry disease. Of these, no pathogenic mutations were identified in six families (5.2%). In total, 73 different disease-causing mutations were identified: 41 missense (56.2%), 11 nonsense (15.1%), four in frame deletion (5.5%), 10 frameshift (13.7%), six splice site (8.2%), and one intronic (1.4%) mutations. The GLA mutations detected in later-onset phenotype patients with end-stage renal disease overlapped with those seen in classical patients, indicating that it is difficult to differentiate between these two phenotypes from gene mutations. Additionally, 33 families (28.7%) had amenable mutations to the pharmacological chaperone migalastat. In conclusion, our study is informative when considering genetic counseling and pharmacological chaperon therapy for Fabry disease.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Kobayashi M,Ohashi T,Kaneshiro E,Higuchi T,Ida H

doi

10.1038/s10038-019-0599-z

subject

Has Abstract

pub_date

2019-07-01 00:00:00

pages

695-699

issue

7

eissn

1434-5161

issn

1435-232X

pii

10.1038/s10038-019-0599-z

journal_volume

64

pub_type

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