ABCMdb

PMID: 19914443

Borowitz D, Parad RB, Sharp JK, Sabadosa KA, Robinson KA, Rock MJ, Farrell PM, Sontag MK, Rosenfeld M, Davis SD, Marshall BC, Accurso FJ
Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.
J Pediatr. 2009 Dec;155(6 Suppl):S106-16., [PubMed]

Sentences

No. Mutations Sentence Comment

57 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Asp1152His ABCC7 p.Asp1152His Up to 7% of infants screened with a trypsinogen/DNA multimutation algorithm in which 2 mutations are identified will have 1 CF-causing mutation and R117H-T7.6 Some individuals with a CF-causing mutation on 1 allele and R117H associated with the T7 intron-8 polythymidine sequence on the other allele may have development of CF-like symptoms (although symptoms are rarely seen in early childhood and may not develop until adulthood.7,8 Others will not develop symptoms.9,10 Some CFTR mutations, including D1152H, have widely variable phenotypes.11 If mutations such as D1152H are found in trans with other phenotypically variable CFTR mutations, such as R117H-T7, an already confounded picture becomes more complicated. Login to comment 58 ABCC7 p.Arg117His ABCC7 p.Asp1152His Mutations such as D1152H and R117H, when compound heterozygous with a disease-causing CFTR mutation may lead to isolated symptoms later in life, such as pancreatitis.12 Intronic Mutations that Affect Splicing Efficiency. Login to comment 198 ABCC7 p.Arg117His However, males with CRMS who have a genotype that includes the R117H mutation are likely to have absence of the vas deferens. Login to comment