A new lysozyme tyr54asn mutation causing amyloidosis in a family of Swedish ancestry with gastrointestinal symptoms

Amyloid

Volumn 19, Issue 4, 2012, Pages 182-185

  Girnius, Saulius ^a   Skinner, Martha ^a   Spencer, Brian ^a   Prokaeva, Tatiana ^a   Bartholomew, Catherine ^b   O'Hara, Carl ^a   Seldin, David C ^a   Connors, Lawreen H ^a  

^a BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b ALBANY MEDICAL CENTER   (United States)

Author keywords

Duodenal amyloidosis; Lysozyme amyloidosis; Malabsorption; Sicca syndrome

Indexed keywords

AMYLOID PROTEIN; ASPARAGINE; C REACTIVE PROTEIN; LYSOZYME; NUCLEOTIDE; TYROSINE;

ABDOMINAL DISCOMFORT; ABDOMINAL PAIN; ADIPOSE TISSUE; ADULT; ARTICLE; BLOOD VESSEL; CASE REPORT; CHRONIC PAIN; DIARRHEA; DISEASE ASSOCIATION; DNA SEQUENCE; DUODENUM BIOPSY; EXON; FAMILIAL AMYLOIDOSIS; FEMALE; GASTROINTESTINAL SYMPTOM; HUMAN; IMMUNOBLOTTING; LAMINA PROPRIA; MALABSORPTION; PRIORITY JOURNAL; SJOEGREN SYNDROME; STOMACH BIOPSY; SWEDEN; WEIGHT REDUCTION;

AMYLOID; AMYLOIDOSIS, FAMILIAL; BIOPSY; DIARRHEA; DUODENUM; EXONS; FEMALE; HUMANS; MIDDLE AGED; MURAMIDASE; PEDIGREE; POINT MUTATION; SEQUENCE ANALYSIS, DNA; STOMACH; WEIGHT LOSS;

EID: 84868357390     PISSN: 13506129     EISSN: 17442818     Source Type: Journal    
DOI: 10.3109/13506129.2012.723074     Document Type: Article

References (17)

1. Benson MD. Other systemic forms of amyloidosis. In: Gertz MA, editor. Amyloidosis: Diagnosis and Treatment (Contemporary Hematology). New York: Humana Press; 2010. pp 205-225.
2. 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;362:553-557. (Pubitemid 23113032)
3. Mir MA. Lysozyme: a brief review. Postgrad Med J 1977;53:257-259.
4. Granel B, Valleix S, Serratrice J, CHin P, Texeira A, Disdier P, Weiller PJ, Grateau G. Lysozyme amyloidosis: report of 4 cases and a review of the literature. Medicine (Baltimore) 2006;85:66-73. (Pubitemid 43884289)
5. Sipe JD, Benson MD, Buxbaum JN, Ikeda S, Merlini G, Saraiva MJ, Westermark P. Amyloid fibril protein nomenclature: 2010 recommendations from the nomenclature committee of the International Society of Amyloidosis. Amyloid 2010;17:101-104.
6. Sattianayagam PTRD, Gibbs SDJ, Trojer H, Russell TL, Pinney JH, Lachmann HJ, Wechalekar AD, et al. Natural history of hereditary lysozyme amyloidosis. Amyloid 2010;17:72-73.
7. Braegger CP, MacDonald TT. The immunologic basis for celiac disease and related disorders. Semin Gastrointest Dis 1996;7:124-133. (Pubitemid 26252397)
8. Lavatelli F, Perlman DH, Spencer B, Prokaeva T, McComb ME, THerge R, Connors LH, et al. Amyloidogenic and associated proteins in systemic amyloidosis proteome of adipose tissue. Mol Cell Proteomics 2008;7:1570-1583.
9. Zalin AM, Jones S, Fitch NJ, Ramsden DB. Familial nephropathic nonneuropathic amyloidosis: clinical features, immunohistochemistry and chemistry. Q J Med 1991;81:945-956.
10. 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;14:2639-2644. (Pubitemid 32208379)
11. Harrison RF, Hawkins PN, Roche WR, MacMahon RF, Hubscher SG, Buckels JA. 'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis. Gut 1996;38:151-152. (Pubitemid 26020941)
12. Rken C, Becker K, Fdrich M, Schroeckh V, Stix B, Rath T, Kne T, et al. ALys amyloidosis caused by compound heterozygosity in exon 2 (Thr70Asn) and exon 4 (Trp112Arg) of the lysozyme gene. Hum Mutat 2006;27:119-120.
13. Valleix S, Drunat S, Philit JB, Adoue D, Piette JC, Droz D, MacGregor B, et al. Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family. Kidney Int 2002;61:907-912. (Pubitemid 34175459)
14. Yazaki M, Farrell SA, Benson MD. A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosis. Kidney Int 2003;63:1652-1657. (Pubitemid 36513310)
15. Booth DR, Pepys MB, Hawkins PN. A novel variant of human lysozyme (T70N) is common in the normal population. Hum Mutat 2000;16:180.
16. Lacy M, Theis J, Vrana J, Madan S, Frederick L, Viswanathan D, Gertz M, Dogan A. Lysozyme amyloidosis (ALys) affecting a family with a new variant of lysozyme gene and hereditary haemorrhagic telangiectasias. Amyloid 2010;17:125.
17. Biesiekierski JR, Newnham ED, Irving PM, Barrett JS, Haines M, Doecke JD, Shepherd SJ, et al. Gluten causes gastrointestinal symptoms in subjects without celiac disease: a double-blind randomized placebocontrolled trial. Am J Gastroenterol 2011;106:508-14; quiz 515.