A transthyretin mutation (Tyr78Phe) associated with peripheral neuropathy, carpal tunnel syndrome and skin amyloidosis

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis
Nadine MagyMerrill D Benson

Abstract

More than 80 transthyretin (TTR) mutations have been described, most associated with amyloidosis. Peripheral neuropathy is the most common clinical presentation in TTR amyloidosis although the carpal tunnel syndrome (CTS) may be the first symptom and skin can be involved, as transthyretin amyloidosis is a systemic disease. The 78 year-old proband, belonging to a French family of Italian origin, presented with a 5 year history of peripheral neuropathy in the lower extremities. However, 15 years earlier he had had surgery for bilateral CTS. Amyloidosis was diagnosed on salivary gland and skin biopsies. Immunohistochemistry on skin biopsy was positive using anti-TTR. The proband has 10 siblings, 5 have CTS. SSCP and direct sequencing of exons 2, 3, and 4 of the TTR gene were done on DNA from the proband and his brother who had had CTS. To confirm the mutation a PCR-IMRA was done. SSCP analysis of TTR exons 2, 3, and 4 did not suggest a mutation. Sequence analysis of TTR exon 3 revealed heterozygosity in both subjects for a single basepair transversion from A to T in codon 78 (TAC-->TTC) indicating a tyrosine to phenylalanine change. The mutation was confirmed by PCR-IMRA. This TTR mutation (Tyr78Phe) is associated with peripheral ...Continue Reading

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Citations

Mar 29, 2008·Endocrine Pathology·Vijay K Vanguri, Vânia Nosé
Jan 20, 2012·The American Journal of Dermatopathology·Angel Fernandez-Flores
Apr 15, 2011·Case Reports in Neurology·Giulietta RiboldiGiacomo P Comi
Dec 20, 2012·The American Journal of Dermatopathology·Ana M Molina-RuizLuis Requena
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Feb 8, 2013·Journal of Cellular and Molecular Medicine·Anabela C Teixeira, Maria J Saraiva
Mar 10, 2016·The American Journal of Dermatopathology·Julien LanoueRobert G Phelps
Nov 26, 2019·Endocrine Research·Vai Hong FongAmandio Vieira
Jul 23, 2020·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Massimo RussoGiuseppe Vita
Jan 4, 2019·Journal of Cardiovascular Translational Research·Giacomo TiniMarco Canepa

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