ABCMdb

PMID: 26386752

Stafler P, Mei-Zahav M, Wilschanski M, Mussaffi H, Efrati O, Lavie M, Shoseyov D, Cohen-Cymberknoh M, Gur M, Bentur L, Livnat G, Aviram M, Alkrinawi S, Picard E, Prais D, Steuer G, Inbar O, Kerem E, Blau H
The impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis: Implications for newborn screening.
J Cyst Fibros. 2015 Sep 16. pii: S1569-1993(15)00203-9. doi: 10.1016/j.jcf.2015.08.007., [PubMed]

Sentences

No. Mutations Sentence Comment

55 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser549Arg ABCC7 p.Gly85Glu ABCC7 p.Asp1152His ABCC7 p.Trp1089* Mutation DF508 G542X W1282X N1303K 3849 + 10kbC- N T D1152H 405 + 1G࢐A G85E S549R W1089X 1717 + 1G࢐A I1234Va Y1092Xb 3121-1G N Ab 3120 + 1kbdel8.6 kbc 2183AA N Gc 4010delTATTc The first 14 mutations served as the panel used for Jewish population carrier screening program during the study period. Login to comment 92 ABCC7 p.Asp1152His Nine of these carried one or more D1152H mutation and 2 had a 5T intron splicing mutation, both associated with a milder phenotype. Login to comment 97 ABCC7 p.Asp1152His 3 carried one or more D1152H mutation. Login to comment 134 ABCC7 p.Asp1152His As our understanding of genotype-phenotype relationships with regards to D1152H [18] and other mutations improves, parents can be supplied with a more robust body of knowledge when making decisions about the continuation of pregnancy. Login to comment 153 ABCC7 p.Tyr1092* In 2007 it was decided to include the mutations 3121-1G N A and Y1092X when screening non-Ashkenazi Jews. Login to comment 155 ABCC7 p.Asp1152His D1152H was removed from the PCS panel in 2013 as it is associated with a milder phenotype, although without NBS, those with significant lung disease will now likely be diagnosed late [26]. Login to comment