Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis

Molecular Genetics and Metabolism

Volumn 92, Issue 1-2, 2007, Pages 168-175

  Masson, Emmanuelle ^a,b   Maréchal, Cédric Le ^a,b,c,d   Levy, Philippe ^e   Chuzhanova, Nadia ^f   Ruszniewski, Philippe ^e   Cooper, David N ^g   Chen, Jian Min ^a,c   Férec, Claude ^a,b,c,d  

^a INSERM   (France)

^b FACULTÉ DE MÉDECINE ET DES SCIENCES DE LA SANTÉ   (France)

^c ETABLISSEMENT FRANÇAIS DU SANG   (France)

^d CHU MORVAN   (France)

^e ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^f UNIVERSITY OF CENTRAL LANCASHIRE   (United Kingdom)

^g CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

CFTR; Chronic pancreatitis; Disease modifier; Genomic disorder; Gross deletion; Missense mutation; NHEJ; non homologous end joining; PRSS1; SPINK1

Indexed keywords

PROTEIN SPINKI; TRANSMEMBRANE CONDUCTANCE REGULATOR; TRYPSIN INHIBITOR; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ARTICLE; CAUCASIAN; CHRONIC PANCREATITIS; CONTROLLED STUDY; DNA STRUCTURE; EVOLUTIONARY HOMOLOGY; FAMILIAL DISEASE; FATHER; GENE DELETION; GENE SEQUENCE; HETEROZYGOSITY LOSS; HUMAN; INHERITANCE; MISSENSE MUTATION; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; QUANTITATIVE GENETICS; RELATIVE;

BASE SEQUENCE; CARRIER PROTEINS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PANCREATITIS, CHRONIC; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 34548459462     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.06.006     Document Type: Article

References (47)

1. Chen J.M., and Férec C. Molecular basis of hereditary pancreatitis. Eur. J. Hum. Genet. 8 (2000) 473-479
2. Whitcomb D.C., Gorry M.C., Preston R.A., Furey W., Sossenheimer M.J., Ulrich C.D., Martin S.P., Gates Jr. L.K., Amann S.T., Toskes P.P., Liddle R., McGrath K., Uomo G., Post J.C., and Ehrlich G.D. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat. Genet. 14 (1996) 141-145
3. Chen J.M., Le Maréchal C., Lucas D., Raguénès O., and Férec C. "Loss of function" mutations in the cationic trypsinogen gene (PRSS1) may act as a protective factor against pancreatitis. Mol. Genet. Metab. 79 (2003) 67-70
4. Witt H., Sahin-Tóth M., Landt O., Chen J.M., Kähne T., Drenth J.P., Kukor Z., Szepessy E., Halangk W., Dahm S., Rohde K., Schulz H.U., Le Maréchal C., Akar N., Ammann R.W., Truninger K., Bargetzi M., Bhatia E., Castellani C., Cavestro G.M., Cerny M., Destro-Bisol G., Spedini G., Eiberg H., Jansen J.B., Koudova M., Rausova E., Macek Jr. M., Malats N., Real F.X., Menzel H.J., Moral P., Galavotti R., Pignatti P.F., Rickards O., Spicak J., Zarnescu N.O., Böck W., Gress T.M., Friess H., Ockenga J., Schmidt H., Pfutzer R., Löhr M., Simon P., Weiss F.U., Lerch M.M., Teich N., Keim V., Berg T., Wiedenmann B., Luck W., Groneberg D.A., Becker M., Keil T., Kage A., Bernardova J., Braun M., Güldner C., Halangk J., Rosendahl J., Witt U., Treiber M., Nickel R., and Férec C. A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis. Nat. Genet. 38 (2006) 668-673
5. Chen J.M., Mercier B., Audrézet M.P., and Férec C. Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis. J. Med. Genet. 37 (2000) 67-69
6. Witt H., Luck W., Hennies H.C., Classen M., Kage A., Lass U., Landt O., and Becker M. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat. Genet. 25 (2000) 213-216
7. Pfutzer R.H., Barmada M.M., Brunskill A.P., Finch R., Hart P.S., Neoptolemos J., Furey W.F., and Whitcomb D.C. SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis. Gastroenterology 119 (2000) 615-623
8. Chen J.M., Mercier B., Audrezet M.P., Raguénès O., Quere I., and Férec C. Mutations of the pancreatic secretory trypsin inhibitor (PSTI) gene in idiopathic chronic pancreatitis. Gastroenterology 120 (2001) 1061-1064
9. Kiraly O., Boulling A., Witt H., Le Maréchal C., Chen J.M., Rosendahl J., Battaggia C., Wartmann T., Sahin-Tóth M., and Férec C. Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis. Hum. Mutat. 28 (2007) 469-476
10. Boulling A., Le Maréchal C., Trouvé P., Raguénès O., Chen J.M., and Férec C. Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene. Eur. J. Hum. Genet. (2007) 10.1038/sj.ejhg.5201873
11. Masson E., Le Maréchal C., Chen J.M., Frebourg T., Lerebours E., and Férec C. Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene. Eur. J. Hum. Genet. 14 (2006) 1204-1208
12. Le Maréchal C., Masson E., Chen J.M., Morel F., Ruszniewski P., Levy P., and Férec C. Hereditary pancreatitis caused by triplication of the trypsinogen locus. Nat. Genet. 38 (2006) 1372-1374
13. Audrézet M.P., Chen J.M., Raguénès O., Chuzhanova N., Giteau K., Le Maréchal C., Quéré I., Cooper D.N., and Férec C. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum. Mutat. 23 (2004) 343-357
14. Chen J.M., Masson E., Macek Jr. M., Raguénès O., Piskackova T., Fercot B., Fila L., Cooper D.N., Audrézet M.P., and Férec C. Detection of two Alu insertions in the CFTR gene. J. Cyst. Fibros. (2007) 10.1016/j.jcf.2007.04.001
15. Le Maréchal C., Chen J.M., Le Gall C., Plessis G., Chipponi J., Chuzhanova N.A., Raguénès O., and Férec C. Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis. Hum. Mutat. 23 (2004) 205
16. Le Maréchal C., Audrézet M.P., Quéré I., Raguénès O., Langonne S., and Férec C. Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling. Hum. Genet. 108 (2001) 290-298
17. Le Maréchal C., Bretagne J.F., Raguénès O., Quéré I., Chen J.M., and Férec C. Identification of a novel pancreatitis-associated missense mutation, R116C, in the human cationic trypsinogen gene (PRSS1). Mol. Genet. Metab. 74 (2001) 342-344
18. Abeysinghe S.S., Chuzhanova N., Krawczak M., Ball E.V., and Cooper D.N. Translocation and gross deletion breakpoints in human inherited disease and cancer I: nucleotide composition and recombination-associated motifs. Hum. Mutat. 22 (2003) 229-244
19. Ball E.V., Stenson P.D., Abeysinghe S.S., Krawczak M., Cooper D.N., and Chuzhanova N.A. Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum. Mutat. 26 (2005) 205-213
20. Chuzhanova N.A., Anassis E.J., Ball E.V., Krawczak M., and Cooper D.N. Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum. Mutat. 21 (2003) 28-44
21. Chen J.M., Férec C., and Cooper D.N. A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3′ UTR variants. Hum. Genet. 120 (2006) 301-333
22. Zuker M. Mfold web server for nucleic acid folding and hybridization prediction. Nucleic Acids Res. 31 (2003) 3406-3415
23. Padiath Q.S., Saigoh K., Schiffmann R., Asahara H., Yamada T., Koeppen A., Hogan K., Ptacek L.J., and Fu Y.H. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat. Genet. 38 (2006) 1114-1123
24. Durand C.M., Betancur C., Boeckers T.M., Bockmann J., Chaste P., Fauchereau F., Nygren G., Rastam M., Gillberg I.C., Anckarsäter H., Sponheim E., Goubran-Botros H., Delorme R., Chabane N., Mouren-Simeoni M.C., de Mas P., Bieth E., Rogé B., Héron D., Burglen L., Gillberg C., Leboyer M., and Bourgeron T. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat. Genet. 39 (2007) 25-27
25. Inoue K., and Lupski J.R. Molecular mechanisms for genomic disorders. Annu. Rev. Genomics Hum. Genet. 3 (2002) 199-242
26. Sharp A.J., Hansen S., Selzer R.R., Cheng Z., Regan R., Hurst J.A., Stewart H., Price S.M., Blair E., Hennekam R.C., Fitzpatrick C.A., Segraves R., Richmond T.A., Guiver C., Albertson D.G., Pinkel D., Eis P.S., Schwartz S., Knight S.J., and Eichler E.E. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat. Genet. 38 (2006) 1038-1042
27. Férec C., Casals T., Chuzhanova N., Macek Jr. M., Bienvenu T., Holubova A., King C., McDevitt T., Castellani C., Farrell P.M., Sheridan M., Pantaleo S.J., Loumi O., Messaoud T., Cuppens H., Torricelli F., Cutting G.R., Williamson R., Ramos M.J., Pignatti P.F., Raguénès O., Cooper D.N., Audrézet M.P., and Chen J.M. Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur. J. Hum. Genet. 14 (2006) 567-576
28. den Dunnen J.T., and Antonarakis S.E. Nomenclature for the description of human sequence variations. Hum. Genet. 109 (2001) 121-124
29. Lieber M.R., Ma Y., Pannicke U., and Schwarz K. Mechanism and regulation of human non-homologous DNA end-joining. Nat. Rev. Mol. Cell Biol. 4 (2003) 712-720
30. Wells R.D. Non-B DNA conformations, mutagenesis and disease. Trends Biochem. Sci. 32 (2007) 271-278
31. Redon R., Ishikawa S., Fitch K.R., Feuk L., Perry G.H., Andrews T.D., Fiegler H., Shapero M.H., Carson A.R., Chen W., Cho E.K., Dallaire S., Freeman J.L., Gonzalez J.R., Gratacos M., Huang J., Kalaitzopoulos D., Komura D., MacDonald J.R., Marshall C.R., Mei R., Montgomery L., Nishimura K., Okamura K., Shen F., Somerville M.J., Tchinda J., Valsesia A., Woodwark C., Yang F., Zhang J., Zerjal T., Zhang J., Armengol L., Conrad D.F., Estivill X., Tyler-Smith C., Carter N.P., Aburatani H., Lee C., Jones K.W., Scherer S.W., and Hurles M.E. Global variation in copy number in the human genome. Nature 444 (2006) 444-454
32. Noone P.G., Zhou Z., Silverman L.M., Jowell P.S., Knowles M.R., and Cohn J.A. Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations. Gastroenterology 121 (2001) 1310-1319
33. Audrézet M.P., Chen J.M., Le Maréchal C., Ruszniewski P., Robaszkiewicz M., Raguénès O., Quéré I., Scotet V., and Férec C. Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis. Eur. J. Hum. Genet. 10 (2002) 100-106
34. Texier F., Lalau G., Dumur V., Louvet A., Dharancy S., Maunoury V., Bulois P., Ernst O., and Mathurin P. Acute recurrent pancreatitis in a composite CFTR heterozygote and Spink1 heterozygote patient. Gastroenterol. Clin. Biol. 30 (2006) 630-631
35. Keiles S., and Kammesheidt A. Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. Pancreas 33 (2006) 221-227
36. Tzetis M., Kaliakatsos M., Fotoulaki M., Papatheodorou A., Doudounakis S., Tsezou A., Makrythanasis P., Kanavakis E., and Nousia-Arvanitakis S. Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis. Clin. Genet. 71 (2007) 451-457
37. Fanen P., Ghanem N., Vidaud M., Besmond C., Martin J., Costes B., Plassa F., and Goossens M. Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 13 (1992) 770-776
38. Derichs N., Schuster A., Grund I., Ernsting A., Stolpe C., Kortge-Jung S., Gallati S., Stuhrmann M., Kozlowski P., and Ballmann M. Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis. Clin. Genet. 67 (2005) 529-531
39. Gomez Lira M., Benetazzo M.G., Marzari M.G., Bombieri C., Belpinati F., Castellani C., Cavallini G.C., Mastella G., and Pignatti P.F. High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia. Am. J. Hum. Genet. 66 (2000) 2013-2014
40. Castellani C., Gomez Lira M., Frulloni L., Delmarco A., Marzari M., Bonizzato A., Cavallini G., Pignatti P., and Mastella G. Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis. Hum. Mutat. 18 (2001) 166
41. Maire F., Bienvenu T., Ngukam A., Hammel P., Ruszniewski P., and Levy P. Frequency of CFTR gene mutations in idiopathic pancreatitis. Gastroenterol. Clin. Biol. 27 (2003) 398-402
42. Gomez-Lira M., Bonamini D., Castellani C., Unis L., Cavallini G., Assael B.M., and Pignatti P.F. Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients. Eur. J. Hum. Genet. 11 (2003) 543-546
43. Girodon E., Cazeneuve C., Lebargy F., Chinet T., Costes B., Ghanem N., Martin J., Lemay S., Scheid P., Housset B., Bignon J., and Goossens M. CFTR gene mutations in adults with disseminated bronchiectasis. Eur. J. Hum. Genet. 5 (1997) 149-155
44. Girodon E., Sternberg D., Chazouillères O., Cazeneuve C., Huot D., Calmus Y., Poupon R., Goossens M., and Housset C. Cystic fibrosis transmembrane conductance regulator (CFTR) gene defects in patients with primary sclerosing cholangitis. J. Hepatol. 37 (2002) 192-197
45. Padoan R., Bassotti A., Seia M., and Corbetta C. Negative sweat test in hypertrypsinaemic infants with cystic fibrosis carrying rare CFTR mutations. Eur. J. Pediatr. 161 (2002) 212-215
46. Chen J.M., Cutler C., Jacques C., Boeuf G., Denamur E., Lecointre G., Mercier B., Cramb G., and Férec C. A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models. Mol. Biol. Evol. 18 (2001) 1771-1788
47. Modiano G., Bombieri C., Ciminelli B.M., Belpinati F., Giorgi S., Georges M., Scotet V., Pompei F., Ciccacci C., Guittard C., Audrézet M.P., Begnini A., Toepfer M., Macek M., Férec C., Claustres M., and Pignatti P.F. A large-scale study of the random variability of a coding sequence: a study on the CFTR gene. Eur. J. Hum. Genet. 13 (2005) 184-192