ABCC7 p.Ile177Phe
| ClinVar: |
c.530T>C
,
p.Ile177Thr
?
, not provided
|
| CF databases: |
c.530T>C
,
p.Ile177Thr
(CFTR1)
?
, The above mutation was detected by DGGE with chemical clamps and direct sequencing. It was not found in 100 other non-[delta]F508 CF chromosomes and 100 non-CF chromosomes tested. This mutation can be easily detected by a new RsaI restriction site. The patient was diagnosed by meconium ileus. The other CFTR mutation in this patient is unknown.
c.531T>G , p.Ile177Met (CFTR1) ? , |
| Predicted by SNAP2: | A: D (59%), C: D (63%), D: D (91%), E: D (75%), F: D (75%), G: D (85%), H: D (80%), K: D (85%), L: N (61%), M: D (66%), N: D (80%), P: D (85%), Q: D (80%), R: D (85%), S: D (53%), T: N (87%), V: N (78%), W: D (85%), Y: D (80%), |
| Predicted by PROVEAN: | A: N, C: N, D: D, E: D, F: N, G: D, H: D, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: N, T: N, V: N, W: D, Y: N, |
[switch to compact view]
Comments [show]
None has been submitted yet.
[hide] Intestinal current measurement for diagnostic clas... Thorax. 2010 Jul;65(7):594-9. Derichs N, Sanz J, Von Kanel T, Stolpe C, Zapf A, Tummler B, Gallati S, Ballmann M
Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data.
Thorax. 2010 Jul;65(7):594-9., [PMID:20627915]
Abstract [show]
BACKGROUND: In questionable cystic fibrosis (CF), mild or monosymptomatic phenotypes frequently cause diagnostic difficulties despite detailed algorithms. CF transmembrane conductance regulator (CFTR)-mediated ion transport can be studied ex vivo in rectal biopsies by intestinal current measurement (ICM). OBJECTIVES: To describe reference values and validate ICM for the diagnostic classification of questionable CF at all patient ages. METHODS: ICM was performed in 309 rectal biopsies from 130 infants, children and adults including patients with known pancreatic-insufficient (PI)-CF (n=34), pancreatic-sufficient (PS)-CF (n=7), patients with an unclear diagnosis with mild CF symptoms, intermediate sweat test and/or CFTR mutation screening (n=61) and healthy controls (n=28). ICM was correlated to sweat chloride, extensive CFTR genotype and transcript analysis in the diagnostic group. The results were compared with previous ICM data in subjects with CF, congenital bilateral absence of the vas deferens, heterozygotes and controls. RESULTS: The cumulative chloride secretory response of DeltaI(sc,carbachol), DeltaI(sc,cAMP/forskolin) and DeltaI(sc,histamine) was the best diagnostic ICM parameter (cut-off 34 muA/cm(2) between patients with known PS-CF and controls), differentiating patients with questionable CF into PS-CF (n=6) and 'CF unlikely' (n=55) groups. Extensive genotype analysis detected two mutations (40% disease-causing) in 100% of individuals classified as PS-CF compared with 1.8% in those classified as 'CF unlikely'. CONCLUSIONS: This comprehensive investigation of CFTR function and genotype underlines the diagnostic value of ICM, especially for confirmation of CF in the absence of two disease-causing CFTR mutations, exclusion of CF despite intermediate sweat test and age groups unsuitable for nasal potential difference measurements. ICM is an important tool for functional assessment in CFTR mutations of unknown clinical relevance.
Comments [show]
None has been submitted yet.
No. Sentence Comment
74 Three patients with a T5 allele had one CFTR mutation (G551D/-; F508del/-; I177F/-), but TGm status (TG11) if available was suggestive to be benign, providing further evidence for the classification 'CF unlikely`.
X
ABCC7 p.Ile177Phe 20627915:74:75
status: NEW