A novel transthyretin variant p.H110D (H90D) as a cause of familial amyloid polyneuropathy in a large Irish kindred

References

• Pepys MB. Amyloidosis. Annu Rev Med 2006;57:223–41
   PubMed Web of Science ®Google Scholar
• Sipe JD, Benson MD, Buxbaum JN, Ikeda S, Merlini G, Saraiva MJ, Westermark P. Nomenclature 2014. Amyloid fibril proteins and clinical classification of the amyloidosis. Amyloid 2014;21:221–4
   PubMed Web of Science ®Google Scholar
• Saraiva MJM, Birken S, Costa PP, Goodman DS. Amyloid fibril protein in familial amyloid polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin). J Clin Invest 1984;74:104–19
   PubMed Web of Science ®Google Scholar
• Benson MD, Uemichi T. Transthyretin amyloidosis. Amyloid 1996;3:44–56
   Web of Science ®Google Scholar
• Rowczenio D, Dogan A, Theis JD, Vrana JA, Lachmann HJ, Wechalekar AD, Gilbertson JA, et al. Amyloidogenicity and clinical phenotype associated with five novel mutations in apolipoprotein A-I. Am J Pathol 2011;179:1978–87
   PubMed Web of Science ®Google Scholar
• Nichols WC, Dwulet FE, Liepnieks J, Benson MD. Variant apolipoprotein AI as a major constituent of a human hereditary amyloid. Biochem Biophys Res Commun 1988;156:762–8
   PubMed Web of Science ®Google Scholar
• Benson MD, Liepnieks JJ, Yazaki M, Yamashita T, Hamidi Asl K, Guenther B, Kluve-Beckerman B. A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene. Genomics 2001;72:272–7
   PubMed Web of Science ®Google Scholar
• Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, et al. Human lysozyme gene mutations cause hereditary systemic amyloidosis. Nature 1993;362:553–7
   PubMed Web of Science ®Google Scholar
• Gillmore JD, Booth DR, Madhoo S, Pepys MB, Hawkins PN. Hereditary renal amyloidosis associated with variant lysozyme in a large English family. Nephrol Dial Transplant 1999;14:2639–44
   PubMed Web of Science ®Google Scholar
• Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R. Hereditary renal amyloidosis associated with a mutant fibrinogen a-chain. Nat Genet 1993;3:252–5
   PubMed Web of Science ®Google Scholar
• Gillmore JD, Lachmann HJ, Rowczenio D, Gilbertson JA, Zeng CH, Liu ZH, Li LS, et al. Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A alpha-chain amyloidosis. J Am Soc Nephrol 2009;20:444–51
   PubMed Web of Science ®Google Scholar
• Ghiso J, Jensson O, Frangione B. Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of g-trace basic protein (cystatin C). Proc Natl Acad Sci USA 1986;83:2974–8
   PubMed Web of Science ®Google Scholar
• Maury CP, Kere J, Tolvanen R, de la Chapelle A. Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease. Genomics 1992;13:902–3
   PubMed Web of Science ®Google Scholar
• Valleix S, Gillmore JD, Bridoux F, Mangione PP, Dogan A, Nedelec B, Boimard M, et al. Hereditary systemic amyloidosis due to Asp76Asn variant beta2-microglobulin. N Engl J Med 2012;366:2276–83
   PubMed Web of Science ®Google Scholar
• Rowczenio DM, Noor I, Gillmore JD, Lachmann HJ, Whelan C, Hawkins PN, Obici L, et al. Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. Hum Mutat 2014;35:E2403–12
   PubMed Web of Science ®Google Scholar
• Puchtler H, Sweat F, Levine M. On the binding of Congo red by amyloid. J Histochem Cytochem 1962;10:355–64
   Web of Science ®Google Scholar
• Gilbertson JA, Hunt T, Hawkins PN, Amyloid typing: experience from a large referral centre. In: Amyloid and related disorders. Humana Press 2012:231–8
   Google Scholar
• Rodriguez FJ, Gamez JD, Vrana JA, Theis JD, Giannini C, Scheithauer BW, Parisi JE, et al. Immunoglobulin derived depositions in the nervous system: novel mass spectrometry application for protein characterization in formalin-fixed tissues. Lab Invest 2008;88:1024–37
   PubMed Web of Science ®Google Scholar
• Perkins DN, Pappin DJ, Creasy DM, Cottrell JS. Probability-based protein identification by searching sequence databases using mass spectrometry data. Electrophoresis 1999;20:3551–67
   PubMed Web of Science ®Google Scholar
• Talmud P, Tybjaerg-Hansen A, Bhatnagar D, Mbewu A, Miller JP, Durrington P, Humphries S. Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia. Atherosclerosis 1991;89:137–41
   PubMed Web of Science ®Google Scholar
• Booth DR, Tan SY, Hawkins PN, Pepys MB, Frustaci A. A novel variant of transthyretin, 59Thr-Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family. Circulation 1995;91:962–7
   PubMed Web of Science ®Google Scholar
• Hawkins PN, Lavender JP, Pepys MB. Evaluation of systemic amyloidosis by scintigraphy with 123I-labeled serum amyloid P component. N Engl J Med 1990;323:508–13
   PubMed Web of Science ®Google Scholar
• Bradwell AR, Carr-Smith HD, Mead GP, Tang LX, Showell PJ, Drayson MT, Drew R. Highly sensitive, automated immunoassay for immunoglobulin free light chains in serum and urine. Clin Chem 2001;47:673–80
   PubMed Web of Science ®Google Scholar
• Kelly JW. Mechanisms of amyloidogenesis. Nat Struct Biol 2000;7:824–6
   PubMedGoogle Scholar
• Andrade C. A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 1952;75:408–27
   PubMed Web of Science ®Google Scholar
• Araki S, Kurihaga T, Tawara S, Kuribayashi T. Familial amyloidotic polyneuropathy in Japan. Clinical, pathophysiological, biochemical, and therapeutic studies. In: Glenner GG, Costa PP, de Freitas AF, eds. Amyloid and amyloidosis. Amsterdam-Oxford-Princeton: Excerpta Medica; 1980:67–77
   Google Scholar
• Sousa A, Andersson R, Drugge U, Holmgren G, Sandgren O. Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence. Hum Hered 1993;43:288–94
   PubMed Web of Science ®Google Scholar
• Olsson M, Jonasson J, Cederquist K, Suhr OB. Frequency of the transthyretin Val30Met mutation in the northern Swedish population. Amyloid 2014;21:18–20
   PubMed Web of Science ®Google Scholar
• Holmgren G, Costa PM, Andersson C, Asplund K, Steen L, Beckman L, Nylander PO, et al. Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate. J Med Genet 1994;31:351–4
   PubMed Web of Science ®Google Scholar
• Reilly MM, Staunton H, Harding AE. Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study. J Neurol Neurosurg Psychiatry 1995;59:45–9
   PubMed Web of Science ®Google Scholar
• Sattianayagam PT, Hahn AF, Whelan CJ, Gibbs SD, Pinney JH, Stangou AJ, Rowczenio D, et al. Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant. Eur Heart J 2012;33:1120–7
   PubMed Web of Science ®Google Scholar
• Saraiva MJ, Almeida MR, Alves IL, Moreira P, Gawinowicz M, Costa PP, Rauh S, et al. Molecular analyses of an acidic transthyretin Asn 90 variant. Am J Hum Genet 1991;48:1004–8
   PubMed Web of Science ®Google Scholar
• Skare J, Jones LA, Myles N, Kane K, Milunsky A, Cohen A, Skinner M. Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis. Clin Genet 1994;45:281–4
   PubMed Web of Science ®Google Scholar
• Bersano A, Del Bo R, Ballabio E, Cinnante C, Lanfranconi S, Comi GP, Baron P, et al. Transthyretin Asn90 variant: amyloidogenic or non-amyloidogenic role. J Neurol Sci 2009;284:113–15
   PubMedGoogle Scholar