Abstract
Inherited forms of amyloidosis are rare; of these, transthyretin-related (ATTR) is the most common, but non-ATTR has been described as well. We studied a large case series of ATTR and a small series of non-ATTR to better determine the mutation frequencies and geographic distributions of these inherited forms of amyloidosis in the United States. We performed a retrospective cross-sectional study of 284 ATTR and non-ATTR patients seen at Mayo Clinic in Rochester, Minnesota, from 1 January 1970 through 29 January 2013. Mutations were identified by DNA sequencing, restriction fragment length polymorphism, or mass spectroscopy. The genetic testing method was unknown for several patients, but a small proportion were identified by family history or by classical clinical presentation associated with a specific mutation. The most common ATTR mutations were Thr60Ala (24%), Val30Met (15%), Val122Ile (10%), and Ser77Tyr (5%). Non-ATTR mutations included gelsolin (n=3), apolipoprotein A-I (n=6), apolipoprotein A-II (n=1), fibrinogen A-α (n=9), and lysozyme (n=1). Although rare, ATTR and, to a lesser extent, non-ATTR are prevalent in the United States and should be considered for patients presenting in the appropriate clinical context.
Original language | English (US) |
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Pages (from-to) | 396-400 |
Number of pages | 5 |
Journal | Clinical Genetics |
Volume | 88 |
Issue number | 4 |
DOIs | |
State | Published - Oct 1 2015 |
Keywords
- Amyloidosis
- Apolipoprotein
- Fibrinogen
- Gelsolin
- Hereditary
- Lysozyme
- Mutation
- Transthyretin
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)