ABCMdb

PMID: 18639722

Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, Legrys VA, Massie J, Parad RB, Rock MJ, Campbell PW 3rd
Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report.
J Pediatr. 2008 Aug;153(2):S4-S14., [PubMed]

Sentences

No. Mutations Sentence Comment

142 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Gly85Glu ABCC7 p.Arg560Thr Recommended panel of CF-causing mutations Missense, deletion, stop mutations Splicing, frameshift mutations G85E I507del R560T 621ϩ1GϾT 2789ϩ5GϾA R117H F508del R1162X 711ϩ1GϾT 3120ϩ1GϾA R334W G542X W1282X 1717-1GϾA 3659delC R347P G551D N1303K 1898ϩ1GϾA 3849ϩ10kbCϾT A455E R553X 2184delA Revised from the mutation panel for population screening for CF developed by the ACMG.77 Additional or alternative mutations present at significant frequencies in an ethnic population served by an NBS program may be added. Login to comment 148 ABCC7 p.Arg117His It may be difficult to distinguish these individuals from those with disease in single organs (eg, congenital absence of the vas deferens, idiopathic pancreatitis, various sinopulmonary disorders), who carry a higher frequency of CFTR gene mutations than the general population.16,57,58 An example of the complexity of mutation analysis is found in the evolving picture of individuals who are compound heterozygotes for a CF-causing mutation and the R117H mutation in the CFTR gene. Login to comment 149 ABCC7 p.Arg117His The likelihood of CF in this group is driven by the length of a polythymidine tract in intron 8 of the R117H allele. Login to comment 150 ABCC7 p.Arg117His The presence of a 5T tract in the R117H background is usually associated with CF, whereas R117H(7T) is more often associated with isolated male infertility or pancreatitis.59 But individuals from both groups may display sweat chloride values in the normal, intermediate, or diagnostic range,60 and some individuals with R117H(7T) can present with CF lung disease. Login to comment