A lifesaving revolution delayed

[...]she found a splice site mutation in my sister's FLNC gene, which encodes filamin C, and proposed that it was the cause of my family's illness1. Using personal correspondence with FLNC researchers"? and the Inflammatory Bowel Disease DNA database", I learned that this variant...

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Bibliographic Details
Published inNature genetics Vol. 56; no. 12; p. 2579
Main Author Liebman, Susan Weiss
Format Journal Article
LanguageEnglish
Published New York Nature Publishing Group US 01.12.2024
Nature Publishing Group
Subjects
631/208/1516/1510
692/700/459/1748
Agriculture
Animal Genetics and Genomics
Biomedical and Life Sciences
Biomedicine
Cancer Research
Cardiomyopathy
Cardiovascular disease
Gene Function
Genetic counseling
Genetic testing
Genetics
Genomes
Genomics
Heart
Human Genetics
Inflammatory bowel diseases
Jewish people
Medical research
Minority & ethnic groups
Mutation
Turning Points
United States > US
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Summary:[...]she found a splice site mutation in my sister's FLNC gene, which encodes filamin C, and proposed that it was the cause of my family's illness1. Using personal correspondence with FLNC researchers"? and the Inflammatory Bowel Disease DNA database", I learned that this variant is found in 1 out of 800 Ashkenazi Jews, but not in other ethnic groups. Because most people with DCM do not know they have it, we only found seven subjects to study, but strikingly, three of them carried my family's mutation (ref. 5 and our unpublished data). To help remedy this situation, I have authored a book, The Dressmaker's Mirror: Sudden Death, Genetics, and a Jewish Family's Secret", that intertwines my family stories of generations of love, loss and resilience with insights into genetics and the ongoing genetic revolution.
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ISSN:1061-4036
1546-1718
1546-1718
DOI:10.1038/s41588-024-02013-0