PMID: 26526220

Schulz A, Tummler B
Non-allergic asthma as a CFTR-related disorder.
J Cyst Fibros. 2015 Oct 30. pii: S1569-1993(15)00253-2. doi: 10.1016/j.jcf.2015.10.011., [PubMed]
Sentences
No. Mutations Sentence Comment
45 ABCC7 p.Asp1152His
X
ABCC7 p.Asp1152His 26526220:45:268
status: NEW
view ABCC7 p.Asp1152His details
 2 A. Schulz, B. T&#fc;mmler / Journal of Cystic Fibrosis xx (2015) xxx-xxx Please cite this article as: Schulz A, T&#fc;mmler B, Non-allergic asthma as a CFTR-related disorder, J Cyst Fibros (2015), http://dx.doi.org/10.1016/j.jcf.2015.10.011 The missense mutation p.Asp1152His that has been classified as a mutation with variable penetrance [4,] was identified in a 9-years old child. Login to comment 65 ABCC7 p.Asp1152His
X
ABCC7 p.Asp1152His 26526220:65:98
status: NEW
view ABCC7 p.Asp1152His details
 Patient A B C D E F G Healthy controlsa CFTR mutation genotypeb F508del/WT WT/WT F508del/WT WT/WT D1152H/WT WT/WT WT/WT Sweat test: chloride [mmol/L] 52, 55 34, 60, 49, 43 60, 65 43, 60 9, 28, 31 45, 55, 58 32, 33, 14 ICM: cumulative response to segretagogues [bc;A/cm2 ]c 82, 76 66, 36, 35 188, 100, 51, 114 NPD:e Basic potential [mV] -30, -18 -32, -35 -19, -14 -24,-36 -30, -44 -20, -36 -16, -9 -18 (-10 to -33) Hyperpolarization potential [mV]f 25, 10 25, 28 11, 10 7, 21 6, 22 12, 19 8, 4 8 (3 to 15) Depolarization potential [mV]g -4, 0 0, -1 -5, -6 -4, -3 0, -3 -7, -1 -2, -3 -15 (-7 to -47) ATP response [mV]h -7, -10 -8,-9 -5, -4 -1, -4 -6, -10 -7, -11 -3, -9 -3 (-1 to -15) Sermet score [10]d -0.81; -0.50 -1.25;-1.29 0.05;0.16 0.09;-0.72 -0.3;-0.77 0.17;-0.84 -0.18;0.13 1.32 (0.37 to 4.5) Wilschanski score [11]d 0.85;1.00 1.00;0.96 0.63;0.55 0.57;0.87 1.00;0.87 0.56;0.95 0.78;0.47 0.18 (0.00 to 0.41) a NPD control measurements were performed according to SOP in 38 healthy individuals. Login to comment