ABCMdb

PMID: 26574590

Kharrazi M, Yang J, Bishop T, Lessing S, Young S, Graham S, Pearl M, Chow H, Ho T, Currier R, Gaffney L, Feuchtbaum L
Newborn Screening for Cystic Fibrosis in California.
Pediatrics. 2015 Dec;136(6):1062-72. doi: 10.1542/peds.2015-0811. Epub 2015 Nov 16., [PubMed]

Sentences

No. Mutations Sentence Comment

30 ABCC7 p.Arg117His For example, the common yet variable R117H mutation was not included on the panel.7 After testing, IRT levels and mutation panel results (when IRT is positive) are reported at the same time as analyte results for other screened disorders. Login to comment 77 ABCC7 p.Gly551Asp ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Pro205Ser ABCC7 p.Gly85Glu ABCC7 p.Ser549Asn ABCC7 p.Arg1066Cys ABCC7 p.His199Tyr ABCC7 p.Ser492Phe ABCC7 p.Ala559Thr ABCC7 p.Gln98Arg July 16, 2007 c.164+2T.A (296+2T.A) 28 c.254G.A (G85E) c.274-1G.A (406-1G.A) c.489+1G.T (621+1G.T) c.579+1G.T (711+1G.T) c.595C.T (H199Y) c.933_935delCTT (F311del) c.1000C.T (R334W) c.1519_1521delATC (I507del) c.1521_1523delCTT (F508del) c.1585-1G.A (1717-1G.A) c.1624G.T (G5423) c.1646G.A (S549N) c.1652G.A (G551D) c.1657C.T (R5533) c.1675G.A (A559T) c.1680-1G.A (1812-1G.A) c.1973-1985del13insAGAAA (2105-2117del13insAGAAA) c.2175_2176insA (2307insA) c.2988+1G.A (3120+1G.A) c.3196C.T (R1066C) c.3266G.A (W10893) c.3485G.T (R11623) c.3611G.A (W12043 [3743G.A]) c.3717+12191C.T (3849+10kbC.T) c.3744delA (3876delA) c.3846G.A (W12823) c.3909C.G (N1303K) October 4, 2007 c.1153_1154insAT (1288insTA) 29 December 12, 2007 c.54-5940_273+10250del21kb (CFTRdele2,3(21kb)) 38 c.531delT (663delT) c.613C.T (P205S) c.803delA (935delA) c.1475C.T (S492F) c.1923_1931del9insA (2055del9.A) c.223C.T (R753) c.293A.G (Q98R) c.3140-26A.G (3272-26A.G) August 12, 2008 c.988G.T (G3303) 40 c.3612G.A (W12043 [3744G.A]) c.3659delC (3791delC) c.164+2T.A (296+2T.A), removed cDNA, complementary DNA. Login to comment 106 ABCC7 p.Arg117His ABCC7 p.Asp1152His [1210-12[5]];[1210-34TG[13]] (IVS8 (TG)13-5T)c 5 1 (n = 2) 3 (n = 1) 4 (n = 2) c.1521_1523delCTT (F508del) / c.3454G.C (D1152H)c 2 0.5d (n = 1) 2 (n = 1) c.1521_1523delCTT (F508del) / c.350G.A (R117H)c 2 1 (n = 1) 2 d (n = 1) c.223C.T (R753) / c. Login to comment 107 ABCC7 p.Ser1159Pro ABCC7 p.Leu32Met [1210-12[5]];[1210-34TG[13]] (IVS8 (TG)13-5T)c 1 1 c.2988+1G.A (3120+1G.A) / c.164+28A.G (296+28A.G)e 1 1d c.1521_1523delCTT (F508del) / c.226C.A (L32M)e 1 2 c.1521_1523delCTT (F508del) / c.3475T.C (S1159P)e 1 2 c.933_935delCTT (delF311)e / c. Login to comment 108 ABCC7 p.Asp614Gly ABCC7 p.Val97Ala ABCC7 p.Ile105Asn [1210-12[5]];[1210-34TG[11]] (IVS8 (TG)11-5T)f 1 2 c.531delT (663delT) / c.314T.A (I105N)e 1 3 c.1521_1523delCTT (F508del) / c.1841A.G (D614G)e 1 3 c.1521_1523delCTT (F508del) / c.290T.C (V97A)e 1 3 c.1519_1521delATC (I507del) / c. Login to comment 109 ABCC7 p.Asp1152His [1210-12[5]];[1210-34TG[12]] (IVS8 (TG)12-5T)c 1 4 c.1624G.T (G5423) / c.3454G.C (D1152H)c 1 5 c.2988+1G.A (3120+1G.A) / c. Login to comment 123 ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala IRT below cutoff 14 9 / (mutations not identified) White (n = 5) Meconium ileus (n = 2) 9 / c.1727G.C (G576A)/ c.2002C.T (R668C) Hispanic (n = 3) Family history (n = 2) 16 / c.1521_1523delCTT (F508del)/ c.1624G.T (G5423) Other/multiple (n = 6) Symptoms (n = 12) 28 / c.1521_1523delCTT (F508del)/ c.1521_1523delCTT (F508del) 28 / c.14C.T (P5L)/ c.870-7_870-5delTTT (1002-7delTTT) 29 / (mutations not identified) 31 / c.1521_1523delCTT (F508del)/ c.2175_2176insA (2307insA) 31 / (mutation not identified)/ c. Login to comment 124 ABCC7 p.Leu206Trp [1210-12[5]];[1210-34TG[13]] (IVS 8 (TG)13-5T) 34 / c.1521_1523delCTT (F508del)/ c.933_935delCTT (F311del) 48 / c.1521_1523delCTT (F508del)/ c.1521_1523delCTT (F508del) 51 / c.1521_1523delCTT (F508del)/ c.1521_1523delCTT (F508del) 52 / (mutations not identified) 54 / c.1521_1523delCTT (F508del)/ c.1792_1798delAAAACTA (1924del7) 58 / c.303_304insA (435insA)/ c.617T.G (L206W) 2. Login to comment 125 ABCC7 p.Arg74Trp ABCC7 p.Val201Met No mutations on panel 9 c.2822delT/ c.2822delT (n = 3) Hispanic (n = 7) Meconium ileus (n = 4) c.1153_1154insAT (1288insTA)/ c.1153_1154insAT (1288insTA)b Other/multiple (n = 2) Family history (n = 4) c.165-3C.T (297-3C.T)/ c.4147_4148insA (4279insA)/ c.4201G.T (E14013) Symptoms (n = 8) c.220C.T (R74W)/ c.601G.A (V201M)/ c.2562T.G (T854T or 2694T/G)/ c. Login to comment 127 ABCC7 p.Gly551Asp ABCC7 p.Asp110His Second mutation not detected by using DNA sequencing 5 c.1521_1523delCTT (F508del)/ (Ex6b_10dup) White (n = 3) Meconium ileus (n = 4) c.1652G.A (G551D)/ c.3964-78_4242+577del (CFTRdel22,23) Hispanic (n = 1) Family history (n = 2) c.1519_1521delATC (I507del)/ c.1680-877G.Tc Unknown (n = 1) Symptoms (n = 3) c.1521_1523delCTT (F508del)/ c.328G.C (D110H)d c.1521_1523delCTT (F508del)/ (mutation not identified) cDNA, complementary DNA. Login to comment