ABCMdb

PMID: 20416310

Ooi CY, Gonska T, Durie PR, Freedman SD
Genetic testing in pancreatitis.
Gastroenterology. 2010 Jun;138(7):2202-6, 2206.e1. Epub 2010 Apr 20., [PubMed]

Sentences

No. Mutations Sentence Comment

53 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Asp1270Asn ABCC7 p.Arg74Trp ABCC7 p.Ser1235Arg ABCC7 p.Lys710* ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala ABCC7 p.Arg297Gln ABCC7 p.Leu997Phe ABCC7 p.Ile1027Thr ABCC7 p.Ile1139Val ABCC7 p.Gly1069Arg ABCC7 p.Gln1476* ABCC7 p.Phe311Leu ABCC7 p.Gln1352His ABCC7 p.Phe575Tyr ABCC7 p.Thr164Ser ABCC7 p.Leu1260Pro ABCC7 p.Phe834Leu ABCC7 p.Lys598Glu ABCC7 p.Gly194Arg ABCC7 p.Arg785Gln ABCC7 p.Arg74Gln ABCC7 p.Leu320Val Interpretation of Mutations Requires an Understanding of Their Functional Consequences Mutation group Reported mutations Complex allele: These mutations are recognized to occur on a single allele R117H ϩ T G576A ϩ R668C F508del ϩ I1027T Benign sequence alterations: These mutations have no known clinical consequence R74Q R297Q R74W 621 * 25 AϾG 3500-19 CϾT T164S C855I I1139V CFTR-related disorder associated: These mutations have been described in individuals with CF-like single organ disease (such as pancreatitis, sinopulmonary disease, or obstructive azoospermia), but do not fulfill the diagnostic criteria for CF 5T R117H D1270N L320V Q1352H 1818-18 GϾA S1235R CF causing F508del Q1476X R553X K710X G542X G551D F311L 2789-5 GϾA 2183AAϾG 711ϩ3 AϾG 3849ϩ10kb CϾT 1341ϩ1GϾA D1152Ha F1074La R553X Unknown clinical consequence F575Y L1260P G194R G1069R L997F K598E F834L R785Q To illustrate this point, mutations identified by extensive mutation testing in a cohort of patients with recurrent acute or chronic pancre- atitis14 are listed according to their clinical consequences (based on current consensus guidelines13 and functional and/or clinical reports; available: http://www.genet.sickkids.on.ca). Login to comment 55 ABCC7 p.Asp1152His ABCC7 p.Phe1074Leu aMutations, such as D1152H and F1074L, may be present in CF and CFTR-related disorders. Login to comment