ABCC7 p.Glu822*

ClinVar: c.2464G>A , p.Glu822Lys ? , not provided
c.2464G>T , p.Glu822* D , Pathogenic
CF databases: c.2464G>T , p.Glu822* D , CF-causing
c.2464G>A , p.Glu822Lys (CFTR1) ? , A nucleotide change, G->A was observed in exon 13 at position 2596 leading to E822K. The patient is 13 years old, and pancreatic insufficient. The other mutation is still unknown. This mutation was found once among 28 Belgian CF chromosomes.

[switch to compact view]
Comments [show]
Publications
[hide] Tzetis M, Efthymiadou A, Doudounakis S, Kanavakis E
Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene.
Hum Genet. 2001 Dec;109(6):592-601. Epub 2001 Nov 6., [PMID:11810271]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Bobadilla JL, Macek M Jr, Fine JP, Farrell PM
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
Hum Mutat. 2002 Jun;19(6):575-606., [PMID:12007216]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Vrettou C, Tzetis M, Traeger-Synodinos J, Palmer G, Kanavakis E
Multiplex sequence variation detection throughout the CFTR gene appropriate for preimplantation genetic diagnosis in populations with heterogeneity of cystic fibrosis mutations.
Mol Hum Reprod. 2002 Sep;8(9):880-6., [PMID:12200467]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Walkowiak J, Nousia-Arvanitakis S, Agguridaki C, Fotoulaki M, Strzykala K, Balassopoulou A, Witt M, Herzig KH
Longitudinal follow-up of exocrine pancreatic function in pancreatic sufficient cystic fibrosis patients using the fecal elastase-1 test.
J Pediatr Gastroenterol Nutr. 2003 Apr;36(4):474-8., [PMID:12658038]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Decaestecker K, Decaestecker E, Castellani C, Jaspers M, Cuppens H, De Boeck K
Genotype/phenotype correlation of the G85E mutation in a large cohort of cystic fibrosis patients.
Eur Respir J. 2004 May;23(5):679-84., [PMID:15176679]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Kerem E
Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy.
Pediatr Pulmonol. 2005 Sep;40(3):183-96., [PMID:15880796]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Tzetis M, Kaliakatsos M, Fotoulaki M, Papatheodorou A, Doudounakis S, Tsezou A, Makrythanasis P, Kanavakis E, 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. 2007 May;71(5):451-7., [PMID:17489851]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Krasnov KV, Tzetis M, Cheng J, Guggino WB, Cutting GR
Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.
Hum Mutat. 2008 Nov;29(11):1364-72., [PMID:18951463]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Forzan M, Salviati L, Pertegato V, Casarin A, Bruson A, Trevisson E, Di Gianantonio E, Clementi M
Is CFTR 621+3 A>G a cystic fibrosis causing mutation?
J Hum Genet. 2010 Jan;55(1):23-6. Epub 2009 Nov 6., [PMID:19893581]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Green DM, McDougal KE, Blackman SM, Sosnay PR, Henderson LB, Naughton KM, Collaco JM, Cutting GR
Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.
Respir Res. 2010 Oct 8;11:140., [PMID:20932301]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Amaral MD, Clarke LA, Ramalho AS, Beck S, Broackes-Carter F, Rowntree R, Mouchel N, Williams SH, Harris A, Tzetis M, Steiner B, Sanz J, Gallati S, Nissim-Rafinifa M, Kerem B, Hefferon T, Cutting GR, Goina E, Pagani F
Quantitative methods for the analysis of CFTR transcripts/splicing variants.
J Cyst Fibros. 2004 Aug;3 Suppl 2:17-23., [PMID:15463919]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Hefferon TW, Broackes-Carter FC, Harris A, Cutting GR
Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.
Am J Hum Genet. 2002 Aug;71(2):294-303. Epub 2002 Jun 13., [PMID:12068373]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Baker MW, Atkins AE, Cordovado SK, Hendrix M, Earley MC, Farrell PM
Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.
Genet Med. 2015 Feb 12. doi: 10.1038/gim.2014.209., [PMID:25674778]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Girardet A, Viart V, Plaza S, Daina G, De Rycke M, Des Georges M, Fiorentino F, Harton G, Ishmukhametova A, Navarro J, Raynal C, Renwick P, Saguet F, Schwarz M, SenGupta S, Tzetis M, Roux AF, Claustres M
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
Eur J Hum Genet. 2015 May 27. doi: 10.1038/ejhg.2015.99., [PMID:26014425]

Abstract [show]
Comments [show]
Sentences [show]