Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

Nature Genetics

Volumn 48, Issue 12, 2016, Pages 1564-1569

  Lyons, Jonathan J ^a   Yu, Xiaomin ^a   Hughes, Jason D ^b   Le, Quang T ^c   Jamil, Ali ^a   Bai, Yun ^a   Ho, Nancy ^d   Zhao, Ming ^a   Liu, Yihui ^a   O'Connell, Michael P ^a   Trivedi, Neil N ^e,f   Nelson, Celeste ^a   DiMaggio, Thomas ^a   Jones, Nina ^g   Matthews, Helen ^a   Lewis, Katie L ^h   Oler, Andrew J ^a   Carlson, Ryan J ^a   Arkwright, Peter D ⁱ   Hong, Celine ^h   Agama, Sherene ^a   Wilson, Todd M ^a   Tucker, Sofie ^a   Zhang, Yu ^a   McElwee, Joshua J ^b   Pao, Maryland ^j   Glover, Sarah C ^k   Rothenberg, Marc E ^l   Hohman, Robert J ^a   Stone, Kelly D ^a   Caughey, George H ^e,f   Heller, Theo ^d   Metcalfe, Dean D ^a   Biesecker, Leslie G ^h   Schwartz, Lawrence B ^c   Milner, Joshua D ^a   more..

^a NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^b MERCK RESEARCH LABORATORIES   (United States)

^c VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f SAN FRANCISCO VETERANS AFFAIRS MEDICAL CENTER   (United States)

^g SAIC FREDERICK INC   (United States)

^h NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

ⁱ UNIVERSITY OF MANCHESTER   (United Kingdom)

^j NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^k UNIVERSITY OF FLORIDA   (United States)

^l CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRYPTASE; TPSAB1 PROTEIN, HUMAN;

ALLELE; ARTHRALGIA; ARTICLE; AUTONOMIC DYSFUNCTION; CLINICAL TRIAL (TOPIC); CONTROLLED STUDY; ENZYME BLOOD LEVEL; FLUSHING; GASTROINTESTINAL MOTILITY DISORDER; GENE; GENE DOSAGE; GENE DUPLICATION; HEADACHE; HUMAN; HUMAN CELL; IRRITABLE COLON; JOINT LAXITY; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; PERIPHERAL BLOOD MONONUCLEAR CELL; POSTURAL ORTHOSTATIC TACHYCARDIA SYNDROME; PRIMARY DENTITION; PRIORITY JOURNAL; SKELETON MALFORMATION; SOUTHERN BLOTTING; SYSTEMIC DISEASE; TPSAB1 GENE; URTICARIA; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING; ADOLESCENT; ADULT; AGED; BLOOD; CHILD; CHRONIC PAIN; CONNECTIVE TISSUE DISEASE; COPY NUMBER VARIATION; DYSAUTONOMIA; ENZYMOLOGY; FEMALE; GASTROINTESTINAL DISEASE; GENETICS; MALE; MIDDLE AGED; PRURITUS; SKIN DISEASE; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; CHILD; CHRONIC PAIN; CONNECTIVE TISSUE DISEASES; DNA COPY NUMBER VARIATIONS; DYSAUTONOMIA, FAMILIAL; FEMALE; GASTROINTESTINAL DISEASES; HUMANS; MALE; MIDDLE AGED; PRURITUS; SKIN DISEASES; TRYPTASES; YOUNG ADULT;

EID: 84991694146     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3696     Document Type: Article

References (37)

1. Fellinger, C. et al. Clinical characteristics and risk profile of patients with elevated baseline serum tryptase. Allergol. Immunopathol. (Madr.) 42, 544-552 (2014
2. Gonzalez-Quintela, A. et al. Factors influencing serum total tryptase concentrations in a general adult population. Clin. Chem. Lab. Med. 48, 701-706 (2010
3. Henningsen, P., Zimmermann, T. & Sattel, H. Medically unexplained physical symptoms, anxiety, and depression: a meta-Analytic review. Psychosom. Med. 65, 528-533 (2003
4. Cardet, J.C., Castells, M.C. & Hamilton, M.J. Immunology and clinical manifestations of non-clonal mast cell activation syndrome. Curr. Allergy Asthma Rep. 13, 10-18 (2013
5. Li, H. et al. Autoimmune basis for postural tachycardia syndrome. J. Am. Heart Assoc. 3, e000755 (2014
6. Zarate, N. et al. Unexplained gastrointestinal symptoms and joint hypermobility: is connective tissue the missing link? Neurogastroenterol. Motil. 22, 252-e78 (2010
7. Lyons, J.J. et al. Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities. J. Allergy Clin. Immunol. 133, 1471-1474 (2014
8. Ross, J. & Grahame, R. Joint hypermobility syndrome. Br. Med. J. 342, c7167 (2011
9. Buskila, D. & Sarzi-Puttini, P. Biology and therapy of fibromyalgia. Genetic aspects of fibromyalgia syndrome. Arthritis Res. Ther. 8, 218 (2006
10. Castori, M. Ehlers-Danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations. ISRN Dermatol. 2012, 751768 (2012
11. Sabato, V. et al. Familial hypertryptasemia with associated mast cell activation syndrome. J. Allergy Clin. Immunol. 134, 1448-1450.e3 (2014
12. Saito, Y.A., Schoenfeld, P. & Locke, G.R., III. The epidemiology of irritable bowel syndrome in North America: a systematic review. Am. J. Gastroenterol. 97, 1910-1915 (2002
13. El-Serag, H.B., Sweet, S., Winchester, C.C. & Dent, J. Update on the epidemiology of gastro-oesophageal reflux disease: a systematic review. Gut 63, 871-880 (2014
14. Remvig, L., Jensen, D.V. & Ward, R.C. Epidemiology of general joint hypermobility and basis for the proposed criteria for benign joint hypermobility syndrome: review of the literature. J. Rheumatol. 34, 804-809 (2007
15. Ruëff, F. et al. Predictors of severe systemic anaphylactic reactions in patients with Hymenoptera venom allergy: importance of baseline serum tryptase-A study of the European Academy of Allergology and Clinical Immunology Interest Group on Insect Venom Hypersensitivity. J. Allergy Clin. Immunol. 124, 1047-1054 (2009
16. Sturm, G.J. et al. Sensitization to Hymenoptera venoms is common, but systemic sting reactions are rare. J. Allergy Clin. Immunol. 133, 1635-43 e1 (2014
17. Savova, V. et al. Genes with monoallelic expression contribute disproportionately to genetic diversity in humans. Nat. Genet. 48, 231-237 (2016
18. Bailey, J.A. et al. Recent segmental duplications in the human genome. Science 297, 1003-1007 (2002
19. Chiang, P.W. et al. Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome. Am. J. Med. Genet. A. 149A, 1463-1467 (2009
20. Trivedi, N.N., Tong, Q., Raman, K., Bhagwandin, V.J. & Caughey, G.H. Mast cell a and β tryptases changed rapidly during primate speciation and evolved from ?-like transmembrane peptidases in ancestral vertebrates. J. Immunol. 179, 6072-6079 (2007
21. Drossman, D.A. & Dumitrascu, D.L. Rome III: new standard for functional gastrointestinal disorders. J. Gastrointestin. Liver Dis. 15, 237-241 (2006
22. Sletten, D.M., Suarez, G.A., Low, P.A., Mandrekar, J. & Singer, W. COMPASS 31: a refined and abbreviated Composite Autonomic Symptom Score. Mayo Clin. Proc. 87, 1196-1201 (2012
23. Biesecker, L.G. et al. The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res. 19, 1665-1674 (2009
24. Alfter, K. et al. New aspects of liver abnormalities as part of the systemic mast cell activation syndrome. Liver Int. 29, 181-186 (2009
25. Zhang, Y. et al. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. J. Allergy Clin. Immunol. 133, 1400-1409, 1409.e1-1409.e5 (2014
26. Brennan, C.W. et al. The somatic genomic landscape of glioblastoma. Cell 155, 462-477 (2013
27. Johnston, J.J. et al. Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. Am. J. Hum. Genet. 96, 913-925 (2015
28. Abecasis, G.R., Cherny, S.S., Cookson, W.O. & Cardon, L.R. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet. 30, 97-101 (2002
29. Kristensen, T., Vestergaard, H., Bindslev-Jensen, C., Møller, M.B. & Broesby-Olsen, S. Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocytosis. Am. J. Hematol. 89, 493-498 (2014
30. Ferrer, M. et al. Serum total tryptase levels are increased in patients with active chronic urticaria. Clin. Exp. Allergy 40, 1760-1766 (2010
31. Schwartz, L.B. Diagnostic value of tryptase in anaphylaxis and mastocytosis. Immunol. Allergy Clin. North Am. 26, 451-463 (2006
32. Le, Q.T., Lotfi-Emran, S., Min, H.K. & Schwartz, L.B. A simple, sensitive and safe method to determine the human a/β-tryptase genotype. PLoS One 9, e114944 (2014
33. Miller, J.S., Moxley, G. & Schwartz, L.B. Cloning and characterization of a second complementary DNA for human tryptase. J. Clin. Invest. 86, 864-870 (1990
34. Trivedi, N.N., Tamraz, B., Chu, C., Kwok, P.Y. & Caughey, G.H. Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations. J. Allergy Clin. Immunol. 124, 1099-105.e1, 4 (2009
35. Kirshenbaum, A.S. et al. Demonstration that human mast cells arise from a progenitor cell population that is CD34+, c-kit+, and expresses aminopeptidase N (CD13). Blood 94, 2333-2342 (1999
36. Schwartz, L.B., Lewis, R.A., Seldin, D. & Austen, K.F. Acid hydrolases and tryptase from secretory granules of dispersed human lung mast cells. J. Immunol. 126, 1290-1294 (1981
37. Tkaczyk, C., Metcalfe, D.D. & Gilfillan, A.M. Determination of protein phosphorylation in FceRI-Activated human mast cells by immunoblot analysis requires protein extraction under denaturing conditions. J. Immunol. Methods 268, 239-243 (2002).