ABCMdb

PMID: 19914431

Munck A, Houssin E, Roussey M
The importance of sweat testing for older siblings of patients with cystic fibrosis identified by newborn screening.
J Pediatr. 2009 Dec;155(6):928-930.e1., [PubMed]

Sentences

No. Mutations Sentence Comment

32 ABCC7 p.Arg117His ABCC7 p.Arg347His Thus, if we consider our 7 symptom-free siblings, 2 had mutations associated with classical CF disease, 1 with variable phenotype expression (an intermediate chloride ST: 50 mmol/L, F508del/R347H) and 4 children (from 3 families) combined a severe mutation with R117H against a background polythymidine sequence of intron 8 7 T-9 T, with 2 ST that were positive. Login to comment 33 ABCC7 p.Arg117His Although the R117H mutation combined with a severe mutation is associated with phenotypic variability, these children require clinical monitoring in a CF care center.4 Many of these individuals may never express the disease,5 but, on rare occasions, patients may show classical CF manifestations6-8 ; therefore correlations between phenotype and the poly (T) variant in cis have limitations. Login to comment