A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy

We detected a point mutation in the transthyretin (TTR) gene associated with familial amyloidotic polyneuropathy (FAP) in a 57-year old male presenting with sensorimotor polyneuropathy, severe autonomic dysfunction and cardiomyopathy using a non-isotopic RNase cleavage assay (NIRCA). NIRCA suggested...

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Bibliographic Details
Published in:Amyloid 2000, Vol.7 (1), p.46-50
Main Authors: Nakamura, Masaaki, Asl, Kamran Hamidi, Benson, Merrill D.
Format: Article
Language:English
Subjects:
Amyloid Neuropathies - genetics
Amyloid Neuropathies - physiopathology
familial amyloidotic polyneuropathy
Glutamine - genetics
Humans
Lysine - genetics
Male
Middle Aged
Mutation
Pedigree
Prealbumin - genetics
Transthyretin
variant
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Summary:We detected a point mutation in the transthyretin (TTR) gene associated with familial amyloidotic polyneuropathy (FAP) in a 57-year old male presenting with sensorimotor polyneuropathy, severe autonomic dysfunction and cardiomyopathy using a non-isotopic RNase cleavage assay (NIRCA). NIRCA suggested that the mutation site was near either amino acid position 58 of mature TTR or the 3′ end of exon 3. Direct DNA sequencing showed both a normal GA G (Glu) and a variantAAG (Lys) codon at amino acid position 89 of mature TTR, which has not been previously reported. The site of this mutation is near the 3′ end of exon 3, consistent with the result of NIRCA. This mutation was also confirmed by polymerase chain reaction-induced mutation restriction analysis (PCR-IMRA).
ISSN:1350-6129
1744-2818
DOI:10.3109/13506120009146824