Hereditary nephropathic systemic amyloidosis caused by a novel variant apolipoprotein A-I

Kidney International

Volumn 53, Issue 2, 1998, Pages 276-281

  Persey, Malcolm R ^b   Booth, David R ^b   Booth, Susanne E ^b   Van Zyl Smit, Raul ^b   Adams, Bruce K ^b   Fattaar, Abe B ^b   Tennent, Glenys A ^b   Hawkins, Philip N ^b   Pepys, Mark B ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b NONE

Author keywords

Amyloidosis; Apolipoprotein A I; Hereditary amyloidosis; Mutation

Indexed keywords

APOLIPOPROTEIN A1;

ADULT; AMYLOIDOSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; KIDNEY AMYLOIDOSIS; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MALE; PRIORITY JOURNAL;

EID: 0031907376     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.1998.00770.x     Document Type: Article

References (15)

1. PEPYS MB: Amyloidosis, in Samter's Immunologic Diseases (5th ed), edited by FRANK MM, AUSTEN KF, CLAMAN HN, UNANUE ER, Boston, Little, Brown and Company, 1994, pp 637-655
2. JONES LA, HARDING JA, COHEN AS, SKINNER M: New USA family has apolipoprotein AI (Arg26) variant, in Amyloid and Amyloidosis 1990, edited by NATVIG JB, FØRRE Ø, HUSBY G, HUSEBEKK A, SKOGEN B, SLETTEN K, WESTERMARK P, Dordrecht, Kluwer Academic Publishers, 1991, pp 385-388
3. SOUTAR AK, HAWKINS PN, VIGUSHIN DM, TENNENT GA, BOOTH SE, HUTTON T, NGUYEN O, TOTTY NF, FEEST TG, HSUAN JJ, PEPYS MB: Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. Proc Natl Acad Sci USA 89:7389-7393, 1992
4. VIGUSHIN DM, GOUGH J, ALLAN D, ALGUACIL A, PENNER B, PETTIGREW NM, QUINONEZ G, BERNSTEIN K, BOOTH SE, BOOTH DR, SOUTAR AK, HAWKINS PN, PEPYS MB: Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg26. Q J Med 87:149-154, 1994
5. BOOTH DR, TAN SY, BOOTH SE, HSUAN JJ, TOTTY NF, NGUYEN O, HUTTON T, VIGUSHIN DM, TENNENT GA, HUTCHINSON WL, THOMSON N, SOUTAR AK, HAWKINS PN, PEPYS MB: A new apolipoprotein AI variant, Trp50Arg, causes hereditary amyloidosis. Q J Med 88:695-702, 1995
6. BOOTH DR, TAN SY, BOOTH SE, TENNENT GA, HUTCHINSON WL, HSUAN JJ, TOTTY NF, NGUYEN O, SOUTAR AK, HAWKINS PN, BRUGUERA M, CABALLERÍA J, SOLÉ M, CAMPISTOL JM, PEPYS MB: Hereditary hepatic and systemic amyloidosis caused by a new deletion/ insertion mutation in the apolipoprotein AI gene. J Clin Invest 98:2714-2721, 1996
7. BENSON MD, LIEPNIEKS J, UEMICHI T, WHEELER G, CORREA R: Hereditary renal amyloidosis associated with a mutant fibrinogen. Nature Genet 3:252-255, 1993
8. UEMICHI T, LIEPNIEKS JJ, BENSON MD: Hereditary renal amyloidosis with a novel variant fibrinogen. J Clin Invest 93:731-736, 1994
9. PEPYS MB, HAWKINS PN, BOOTH DR, VIGUSHIN DM, TENNENT GA, SOUTAR AK, TOTTY N, NGUYEN O, BLAKE CCF, TERRY CJ, FEEST TG, ZALIN AM, HSUAN JJ: Human lysozyme gene mutations cause hereditary systemic amyloidosis. Nature 362:553-557, 1993
10. HAWKINS PN, PEPYS MB: Imaging amyloidosis with radiolabelled SAP. Eur J Nucl Med 22:595-599, 1995
11. PUCHTLER H, SWEAT F, LEVINE M: On the binding of Congo red by amyloid. J Histochem Cytochem 10:355-364, 1962
12. NICHOLS WC, DWULET FE, LIEPNIEKS J, BENSON MD: Variant apolipoprotein AI as a major constituent of a human hereditary amyloid. Biochem Biophys Res Commun 156:762-768, 1988
13. NICHOLS WC, GREGG RE, BREWER HBJ, BENSON MD: A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy. Genomics 8:318-323, 1990
14. JOHNSON KH, SLETTEN K, HAYDEN DW, O'BRIEN TD, ROERTGEN KE, WESTERMARK P: Pulmonary vascular amyloidosis in aged dogs. A new form of spontaneously occurring amyloidosis derived from apolipoprotein AI. Am J Pathol 141:1013-1019, 1992
15. WESTERMARK P, MUCCHIANO G, MARTHIN T, JOHNSON KH, SLETTEN K: Apolipoprotein Al-derived amyloid in human aortic atherosclerotic plaques. Am J Pathol 147:1186-1192, 1995