Identification and characterisation of eight novel SERPINA1 Null mutations

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Ferrarotti, Ilaria ^a,f   Carroll, Tomás P ^b   Ottaviani, Stefania ^a   Fra, Anna M ^c   O'Brien, Geraldine ^b   Molloy, Kevin ^b   Corda, Luciano ^d   Medicina, Daniela ^d   Curran, David R ^e   McElvaney, Noel G ^b   Luisetti, Maurizio ^a,f  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b BEAUMONT HOSPITAL   (Ireland)

^c UNIVERSITY OF BRESCIA   (Italy)

^d SPEDALI CIVILI   (Italy)

^e MERCY UNIVERSITY HOSPITAL   (Ireland)

^f UNIVERSITY OF PAVIA   (Italy)

Author keywords

Alpha 1 antitrypsin deficiency; Lung diseases; Q0 mutation; Serpins

Indexed keywords

AGAROSE; ALPHA 1 ANTITRYPSIN; SERINE PROTEINASE INHIBITOR;

ADULT; AGED; ARTICLE; ASTHMA; CHILD; CHRONIC BRONCHITIS; CLINICAL ARTICLE; CONTROLLED STUDY; COUGHING; DNA ISOLATION; DRIED BLOOD SPOT TESTING; DYSPNEA; EMPHYSEMA; FEMALE; GENE; GENE FREQUENCY; GENE SEQUENCE; HUMAN; ISOELECTRIC FOCUSING ANALYSIS; MALE; MIDDLE AGED; MUTATIONAL ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PROTEIN ANALYSIS; PROTEIN BLOOD LEVEL; SCHOOL CHILD; SERPINA1 GENE; SMOKING; TURBIDIMETRY; YOUNG ADULT; ALPHA 1 ANTITRYPSIN DEFICIENCY; GENETICS; LUNG; MUTATION; PATHOPHYSIOLOGY;

ADULT; AGED; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; FEMALE; HUMANS; LUNG; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; SERINE PROTEINASE INHIBITORS;

EID: 84989964336     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-014-0172-y     Document Type: Article

References (46)

1. Carrell RW, Jeppsson JO, Laurell CB, Brennan SO, Owen MC, Vaughan L, Boswell DR: Structure and variation of human alpha 1-antitrypsin. Nature 1982, 298:329-334.
2. Kelly E, Greene CM, Carroll TP, McElvany NG, O'Neill SJ: Alpha-1 antitrypsin deficiency. Respir Med 2010, 104:763-772.
3. Rogers J, Kalsheker N, Wallis S, Speer A, Coutelle CH, Woods D, Humphries SE: The isolation of a clone for human alpha 1-antitrypsin and the detection of alpha 1-antitrypsin in mRNA from liver and leukocytes. Biochem Biophys Res Commun 1983, 116:375-382.
4. Ferrarotti I, Thun GA, Zorzetto M, Ottaviani S, Imboden M, Schindler C, von Eckardstein A, Rohrer L, Rochat T, Russi EW, Probst-Hensh NM, Luisetti M: Serum levels and genotype distribution of alpha1-antitrypsin in the general population. Thorax 2012, 67:669-674.
5. Bergin DA, Hurley K, McElvaney NG, Reeves EP: Alpha-1 antitrypsin: a potent anti-inflammatory and potential novel therapeutic agent. Arch Immunol Ther Exp (Warsz) 2012, 60:81-97.
6. Edmonds BK, Hodge JA, Rietschel RL: Alpha 1-antitrypsin deficiencyassociated panniculitis: case report and review of the literature. Pediatr Dermatol 1991, 8:296-299.
7. Lewis M, Kallenbach J, Zaltzman M, Levy H, Lurie D, Baynes R, King P, Meyers A: Severe deficiency of alpha 1-antitrypsin associated with cutaneous vasculitis, rapidly progressive glomerulonephritis, and colitis. Am J Med 1985, 79:489-494.
8. Barnett VT, Sekosan M, Khurshid A: Wegener's granulomatosis and alpha1- antitrypsin-deficiency emphysema: proteinase-related diseases. Chest 1999, 116:253-255.
9. Lyons PA, Rayner TF, Trivedi S, Holle JU, Watts RA, Jayne DR, Baslund B, Brenchley P, Bruchfeld A, Chaudhry AN, Cohen Tervaert JW, Deloukas P, Feighery C, Gross WL, Guillevin L, Gunnarsson I, Harper L, Hrušková Z, Little MA, Martorana D, Neumann T, Ohlsson S, Padmanabhan S, Pusey CD, Salama AD, Sanders JS, Savage CO, Segelmark M, Stegeman CA, Tesař V, et al: Genetically distinct subsets within ANCA-associated vasculitis. N Engl J Med 2012, 367(3):214-223.
10. Lomas DA, Evans DL, Finch JT, Carrell RW: The mechanism of Z alpha 1-antitrypsin accumulation in the liver. Nature 1992, 357:605-607.
11. Curiel DT, Chytil A, Courtney M, Crystal RG: Serum alpha 1-antitrypsin deficiency associated with the common S-type (Glu264-Val) mutation results from intracellular degradation of alpha 1-antitrypsin prior to secretion. J Biol Chem 1989, 264(18):10477-10486.
12. Dahl M, Hersh CP, Ly NP, Berkey CS, Silverman EK, Nordestgaard BG: The protease inhibitor PI∗S allele and COPD: a meta-analysis. Eur Respir J 2005, 26(1):67-76.
13. Mahadeva R, Chang WS, Dafforn TR, Oakley DJ, Foreman RC, Calvin J, Wight DG, Lomas DA: Heteropolymerization of S, I, and Z alpha1-antitrypsin and liver cirrhosis. J Clin Invest 1999, 103(7):999-1006.
14. Takahashi H, Crystal RG: Alpha 1-antitrypsin Null(isola di procida): an alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exons. Am J Hum Genet 1990, 47:403-413.
15. Laubach VE, Ryan WJ, Brantly M: Characterization of a human alpha 1-antitrypsin null allele involving aberrant mRNA splicing. Hum Mol Genet 1993, 2:1001-1005.
16. Lee J, Novoradovskaya N, Rundquist B, Redwine J, Saltini C, Brantly M: Alpha 1-antitrypsin nonsense mutation associated with a retained truncated protein and reduced mRNA. Mol Genet Metab 1998, 63:270-280.
17. Sifers RN, Brashears-Macatee S, Kidd VJ, Muensch H, Woo SL: A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum. J Biol Chem 1988, 263:7330-7335.
18. Brodbeck RM, Brown JL: Secretion of a-1-proteinase inhibitor requires an almost full length molecule. J Biol Chem 1992, 267:294-297.
19. Fregonese L, Stolk J, Frants RR, Veldhuisen B: Alpha-1 antitrypsin Null mutations and severity of emphysema. Respir Med 2008, 102:876-884.
20. Ferrarotti I, Scabini R, Campo I, Ottaviani S, Zorzetto M, Gorrini M, Luisetti M: Laboratory diagnosis of alpha1-antitrypsin deficiency. Transl Res 2007, 150:267-274.
21. Zerimech F, Hennache G, Bellon F, Barouh G, Jacques Lafitte J, Porchet N, Balduyck M: Evaluation of a new Sebia isoelectrofocusing kit for alpha 1-antitrypsin phenotyping with the Hydrasys System. Clin Chem Lab Med 2008, 46:260-263.
22. Medicina D, Montani N, Fra AM, Tiberio L, Corda L, Miranda E, Pezzini A, Bonetti F, Ingrassia R, Scabini R, Facchetti F, Schiaffonati L: Molecular characterization of the new defective P(brescia) alpha1-antitrypsin allele. Hum Mut 2009, 30:E771-E781.
23. Lee HJ, Brantly M: Molecular mechanism of alpha1-antitrypsin null alleles. Respir Med 2000, 94:S7-S11.
24. Miravitlles M, Herr C, Ferrarotti I, Jardi R, Rodriguez-Frias F, Luisetti M, Bals R: Laboratory testing of individuals with severe alpha1-antitrypsin deficiency in three European centres. Eur Respir J 2010, 35:960-968.
25. Rodriguez-Frias F, Vila-Auli B, Homs-Riba M, Vidal-Pla R, Calpe-Calpe JL, Jardi-Margalef R: Diagnosis of alpha-1 antitrypsin deficiency: limitations of rapid diagnostic laboratory tests. Arch Bronconeumol 2011, 47:415-417.
26. Talamo RC, Langley CE, Reed CE, Makino S: Antitrypsin deficiency: a variant with no detectable α1 -antitrypsin. Science 1973, 181:70-71.
27. Blundell G, Cole RB, Nevin NC, Bradley B: Alpha 1-antitrypsin null gene (pi). Lancet 1974, 2:404.
28. Poller W, Faber JP, Weidenger S, Olek K: DNA polymorphism associated with a new α1-antitrypsin PIQ0 variant (PI Q0riedenburg). Hum Genet 1991, 86:522-524.
29. Brantly M, Schreck P, Rouhani FN, Bridges LR, Leong A, Viranovskaya N, Charleston C, Min B, Strange C: Rare and novel alpha-1-antitrypsin alleles identified through the University of Florida-Alpha-1 Foundation DNA bank [abstract]. Am J Respir Crit Care Med 2009, 179:A3506.
30. Seixas S, Mendonça C, Costa F, Rocha J: alpha1-Antitrypsin null alleles: evidence for the recurrence of the L353fsX376 mutation and a novel G->A transition in position +1 of intron IC affecting normal mRNA splicing. Clin Genet 2002, 62:175-180.
31. Lara B, Martinez MT, Balnco I, Hernàndez-Moro C, Velasco EA, Ferrarotti I, Rodriguez-Frias F, Perez L, Vazquez I, Alonso J, Posada M, Martinez-Delgado B: Severe alpha1-antitrypsin deficiency in composite heterozigotes inheriting a new splicing mutation Q0madrid. Resp Res 2014, 15:125.
32. Prins J, van der Meijden BB, Kraaijenhagen RJ, Wielders JP: Inherited chronic obstructive pulmonary disease: new selective-sequencing workup for alpha1-antitrypsin deficiency identifies 2 previously unidentified null alleles. Clin Chem 2008, 54:101-107.
33. Satoh K, Nukiwa T, Brantly M, Garver RI Jr, Hofker M, Courtney M, Crystal RG: Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance of a stop codon in an alpha 1-antitrypsin-coding exon. Am J Hum Genet 1988, 42:77-83.
34. Zorzetto M, Ferrarotti I, Campo I, Balestrino A, Nava S, Gorrini M, Scabini R, Mazzola P, Luisetti M: Identification of a novel alpha1-antitrypsin null variant (Q0Cairo). Diagn Mol Pathol 2005, 14:121-124.
35. Rametta R, Nebbia G, Dongiovanni P, Farallo M, Fargion S, Valenti L: A novel alpha1-antitrypsin gene variant (PiQ0Milano). World J Hepatol 2013, 5:458-461.
36. Nukiwa T, Takahashi H, Brantly M, Courtney M, Crystal RG: alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon. J Biol Chem 1987, 262:11999-12004.
37. Curiel D, Brantly M, Curiel E, Stier L, Crystal RG: α1-antitrypsin deficiency caused by the α1-antitrypsin Nullmattawa gene. J Clin Invest 1989, 83:1144-1152.
38. Van Rodrigues L, Costa F, Marques P, Mendonça C, Rocha J, Seixas S: Severe α-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and history. Clin Genet 2011, 81:462-469.
39. Fraizer GC, Siewertsen MA, Harrold TR, Cox DW: Deletion/frameshift mutation in the α1-antitrypsin null allele, PI∗Q0bolton. Hum Genet 1989, 83:377-382.
40. Brantly M, Lee JH, Hildeshine J, Uhm C, Prakash UBS, Staats BA, Crystal RG: Alpha1-antitrypsin gene mutation hot spot associated with the formation of a retained and degraded null variant. Am J Respir Cell Mol Biol 1997, 16:225-231.
41. Faber JP, Poller W, Weidinger S, Kirchfesser M, Schwaab R, Bidlingmaier F, Olek K: Identification and DNA sequence analysis of 15 new alpha1- antitryspin variants, including two PI∗Q0 alleles and one deficient PI∗ M allele. Am J Hum Genet 1994, 55:1113-1121.
42. Frazier GC, Siewertsen MA, Hofker MH, Brubacher MG, Cox DW: A Null deficient allele of alpha1-antitrypsin, Q0ludwingshafen, with altered tertiary structure. J Clin Invest 1990, 86:1878-1884.
43. Graham A, Kalsheker NA, Bamforth FJ, Newton CR, Markham AF: Molecular characterization of two alpha 1-antitrypsindeficiency variants: proteinase inhibitor (Pi)Null Newport (Gly115→Ser) and (Pi)Z Wrexham (Ser-19→Leu). Hum Genet 1990, 85:537-540.
44. Kalsheker N, Hayes K, Weidinger S, Graham A: What is Pi (proteinase inhibitor)Null or PiQ0?: a problem highlighted by the alpha 1 antitrypsin Mheerlen mutation. J Med Genet 1992, 29:27-29.
45. Graham A, Kalsheker NA, Newton CR, Bamforth FJ, Powell SJ, Markham AF: Molecular characterization of three alpha 1-antitrypsindeficiency variants: proteinase inhibitor (Pi)Null Cardiff (Asp256→Val), Pi M Malton (Phe51→deletion) and Pi I (Arg39→Cys). Hum Genet 1989, 84:55-58.
46. Fra AM, Gooptu B, Ferrarotti I, Miranda E, Scabini R, Ronzoni R, Benini F, Corda L, Medicina D, Luisetti M, Schiaffonati L: Three new alpha1-antitrypsin deficiency variants help to define a C-terminal region regulating conformational stability and polymerization. PlosOne 2012, 7:e38405.