ABCMdb

PMID: 21783433

Costa C, Pruliere-Escabasse V, de Becdelievre A, Gameiro C, Golmard L, Guittard C, Bassinet L, Bienvenu T, Georges MD, Epaud R, Bieth E, Giurgea I, Aissat A, Hinzpeter A, Costes B, Fanen P, Goossens M, Claustres M, Coste A, Girodon E
A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice.
J Cyst Fibros. 2011 Jul 21., 2011-07-21 [PubMed]

Sentences

No. Mutations Sentence Comment

27 ABCC7 p.Leu467Phe [Phe508del; Leu467Phe] France (Corsica) 3 M 8 Deceased DB PI Na Failure to thrive (-2SD) Deceased at 14y 40-59 CF p.Phe508del France 4 F 6 28 DB PI No Sister of patient #3 37-58 CF p.Phe508del France 5 M 3 26 DB, Pa PI Nd 100 CF p.Gly542X Nd 6 F 10 24 None declared PS Nd Sister of patient #5 ≥60 CF p.Gly542X Nd 7 F Childhood 28 DB PS No ≥60 CF p.Phe508del Nd 8 F 31 51 DB, Pa and Sa FEV1 24% PS No ≥60 CF p.Gly542X France (Center) 9 F 31 51 DB PS No Sister of patient #8; lung transplantation at 43y ≥60 CF p.Gly542X France (Center) 10 M 42 55 D B , Sa , Hi , FEV1 50% PS CBAVD Brother of patient #8; diabetes Nd CF p.Gly542X France (Center) 11 M 37 55 DB PI CBAVD Nasal polyposis ≥60 CF p.Arg553X France (Corsica) 12 M 40 59 DB, Pa infection PI CBAVD Diabetes; high blood pressure; kidney lithiasis 80-83 CF p.Gly542X Italy 13 M 24 29 None declared PS No Acute pancreatitis Nd C F T R - RD c . Login to comment 29 ABCC7 p.Arg117Cys kansaii and M. avium, FEV1 77% PS No 70-83 CF p.Phe508del France 15 F 14 19 None declared PS Na Chronic pancreatitis 60, 105 CF p.Arg117Cys France 16 M 35 43 None declared Nd CBAVD Nd C F T R - RD Undetected Nd 17 F Nd 28 DB PS Nd b40 C F T R - RD Undetected France CBAVD: congenital bilateral absence of vas deferens; CSD: chronic sinus disease; DB: disseminated bronchiectasis; FEV1: forced expiratory volume in one second; Hi: Haemophilus influenza; M: Mycobacterium; Na: not applicable; NBS: newborn screening; Nd: not documented; NP: nasal polyposis; Pa: Pseudomonas aeruginosa; PI: pancreatic insufficiency; PS: pancreatic sufficiency; Sa: Staphylococcus aureus. Login to comment 51 ABCC7 p.Arg553* ABCC7 p.Gly542* The mutations in trans of c.870-1113_1110delGAAT were mostly frequent severe mutations: p.Phe508del (n=5 families); c.1624GNT, p.Gly542X (G542X) (n = 3 families); and c.1657CNT, p.Arg553X (R553X) (n=1 family). Login to comment