The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients

The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients

Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked, inherited genetic disease caused by a functional deficiency of lysosomal α-galactosidase, leading to the accumulation of glycosphingolipids in virtually all of the body’s cell types and fluids. Patients with rare genetic...

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Bibliographic Details
Main Authors: Sergey Moiseev, Ekaterina Tao, Alexey Moiseev, Nikolay Bulanov, Ekaterina Filatova, Victor Fomin, Dominique P. Germain
Format: Article
Language:English
Published: MDPI AG 2022-09-01
Series:Genes
Subjects:
rare diseases
Fabry disease
family screening
cascade genotyping
early diagnosis
Online Access:https://www.mdpi.com/2073-4425/13/9/1619

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