A Dutch kindred with familial amyloidotic polyneuropathy associated with the transthyretin Cys 114 mutant

Elizabeth B. Haagsma; Jan G. Post; Aiko E.J. De Jager; Peter G.J. Nikkels; Ben C.J. Hamel; Bouke P.C. Hazenberg

doi:10.3109/13506129708995280

A Dutch kindred with familial amyloidotic polyneuropathy associated with the transthyretin Cys 114 mutant

Elizabeth B. Haagsma^*, Jan G. Post, Aiko E.J. De Jager, Peter G.J. Nikkels, Ben C.J. Hamel, Bouke P.C. Hazenberg

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

8 Citations (Scopus)

Abstract

A Dutch kindred with transthyretin Cys 114 related familial amyloidotic polyneuropathy is reported. The finding of early involvement of the heart is of great concern and of special relevance to the optimal timing for liver transplantation. To date, the variant had only been reported to be present in Japan. The variant was identified by PCR DNA amplification, single strand conformation polymorphism analysis and DNA sequence analysis. Total transthyretin serum levels in 6 Cys 114 patients (median 115 mg/l, range 70-150) were found to be significantly lower than in 12 Met 30 patients (median 325 mg/l, range 160-590) (p<0.0001), which suggests rapid breakdown and/or transformation into amyloid and/or decreased synthesis.

Original language	English
Pages (from-to)	112-117
Number of pages	6
Journal	Amyloid
Volume	4
Issue number	2
DOIs	https://doi.org/10.3109/13506129708995280
Publication status	Published - 1 Jan 1997

Keywords

Cardiac amyloidosis
Cys 114
Inherited amyloidosis
Point mutation
Serum level
Transthyretin

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title = "A Dutch kindred with familial amyloidotic polyneuropathy associated with the transthyretin Cys 114 mutant",

abstract = "A Dutch kindred with transthyretin Cys 114 related familial amyloidotic polyneuropathy is reported. The finding of early involvement of the heart is of great concern and of special relevance to the optimal timing for liver transplantation. To date, the variant had only been reported to be present in Japan. The variant was identified by PCR DNA amplification, single strand conformation polymorphism analysis and DNA sequence analysis. Total transthyretin serum levels in 6 Cys 114 patients (median 115 mg/l, range 70-150) were found to be significantly lower than in 12 Met 30 patients (median 325 mg/l, range 160-590) (p<0.0001), which suggests rapid breakdown and/or transformation into amyloid and/or decreased synthesis.",

keywords = "Cardiac amyloidosis, Cys 114, Inherited amyloidosis, Point mutation, Serum level, Transthyretin",

author = "Haagsma, {Elizabeth B.} and Post, {Jan G.} and {De Jager}, {Aiko E.J.} and Nikkels, {Peter G.J.} and Hamel, {Ben C.J.} and Hazenberg, {Bouke P.C.}",

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T1 - A Dutch kindred with familial amyloidotic polyneuropathy associated with the transthyretin Cys 114 mutant

AU - Haagsma, Elizabeth B.

AU - Post, Jan G.

AU - De Jager, Aiko E.J.

AU - Nikkels, Peter G.J.

AU - Hamel, Ben C.J.

AU - Hazenberg, Bouke P.C.

PY - 1997/1/1

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N2 - A Dutch kindred with transthyretin Cys 114 related familial amyloidotic polyneuropathy is reported. The finding of early involvement of the heart is of great concern and of special relevance to the optimal timing for liver transplantation. To date, the variant had only been reported to be present in Japan. The variant was identified by PCR DNA amplification, single strand conformation polymorphism analysis and DNA sequence analysis. Total transthyretin serum levels in 6 Cys 114 patients (median 115 mg/l, range 70-150) were found to be significantly lower than in 12 Met 30 patients (median 325 mg/l, range 160-590) (p<0.0001), which suggests rapid breakdown and/or transformation into amyloid and/or decreased synthesis.

AB - A Dutch kindred with transthyretin Cys 114 related familial amyloidotic polyneuropathy is reported. The finding of early involvement of the heart is of great concern and of special relevance to the optimal timing for liver transplantation. To date, the variant had only been reported to be present in Japan. The variant was identified by PCR DNA amplification, single strand conformation polymorphism analysis and DNA sequence analysis. Total transthyretin serum levels in 6 Cys 114 patients (median 115 mg/l, range 70-150) were found to be significantly lower than in 12 Met 30 patients (median 325 mg/l, range 160-590) (p<0.0001), which suggests rapid breakdown and/or transformation into amyloid and/or decreased synthesis.

KW - Cardiac amyloidosis

KW - Cys 114

KW - Inherited amyloidosis

KW - Point mutation

KW - Serum level

KW - Transthyretin

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A Dutch kindred with familial amyloidotic polyneuropathy associated with the transthyretin Cys 114 mutant

Abstract

Keywords

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