ABCMdb

PMID: 25900089

Brennan ML, Pique LM, Schrijver I
Assessment of epithelial sodium channel variants in nonwhite cystic fibrosis patients with non-diagnostic CFTR genotypes.
J Cyst Fibros. 2015 Apr 17. pii: S1569-1993(15)00101-0. doi: 10.1016/j.jcf.2015.04.001., [PubMed]

Sentences

No. Mutations Sentence Comment

44 ABCC7 p.Thr663Ala ABCC7 p.Thr663Ala ABCC7 p.Ala357Thr Ethnicity # of subjectsa SCNN1 subunit Genotype/clinical characteristicsb Sequence variantc Caucasian (France) [26] 56 B Two CFTR mutations; Classic CF p.Thr313Met, p.Gly589Ser G p.Leu481Gln, p.Val546Ile Caucasian (Europe) [28] 29; 47 A One/no CFTR mutation; typical and atypical CF cases c.-760ANG, c.-717GNC, c.-68CNT, p.Pro33Pro p.Phe61Leu, p.Val114Ile, p.Leu180Leu, p.Arg181Trp, p.Ala334Thr, p.Trp493Arg, p.Thr663Ala B p.Ser82Cys, p.Pro93Pro, c.777-5TNC, p.Phe293Phe, p.Ile515Ile, p.Gly589Ser, p.Asp629Asp G p.Tyr129Tyr, p.Ile158Ile, p.Gly183Gly, p.Glu197Lys, c.1176+14ANG, c.1373+29TNC, c.1432-7GNA, p.Leu649Leu Unknown (USA) [23] 20 A No CFTR mutations p.Arg181Trp B Non-classic CF p.Glu539Lys, c.1543-2ANG African 5; 55 (Rwanda) [27] A One/no CFTR mutation; CF-like c.-28TNC, p.Val573Ile B p.Val348Met, p.Gly442Val, p.Thr577Thr, c.1346+28CNT G p.Ser212Ser, c.1176+30GNC Caucasian (Spain) [29] 10 A One/no CFTR mutation; CF and CF-like p.Val14Gly, p.Leu203Leu, p.Arg204Trp, p.Ala304Pro, p.Ala357Thr, p.Cys641Phe, c.875+35GNA B p.Phe293Phe, p.Arg563Gln, p.Pro574Pro G p.Gly183Gly Caucasian/African (France) [24] 20; 35 B One/no CFTR mutation p.Ser82Cys, p.Asn288Ser,p.Pro369Thr G Bronchiectasis p.Gly183Ser, p.Glu197Lys Caucasian (Italy) [35] 24; 15 A One/no CFTR mutation; CFTR-related disorders c.-760ANG, p.Ala334Thr, p.Thr663Ala B p.Pro93Pro, p.Phe293Phe G p.Tyr129Tyr, p.Ile158Ile, p.Gly183Gly, p.Leu649Leu, c.1176+14ANG, c.1373+29TNC, c.1432-7GNA a Listed as number of subjects per genotype (if known). Login to comment 124 ABCC7 p.Arg117His ABCC7 p.Arg117His Carrier status Number of patients CFTR variant Legacy name None 19 None Heterozygous 1 Complex rearrangement Heterozygous 4 p.Phe508del ƊF508 Heterozygous 1 p.Arg117His R117H Heterozygous 1 c.-288GNC N/A Heterozygous 1 c.-461ANG -329ANG Heterozygous 1 c.1393-42GNA 1525-42GNA Heterozygous 1 c.1327_1330dup 1461ins4 Heterozygous 1 c.2554dupT N/A Heterozygous 1 c.2620-15CNG 2752-15CNG Heterozygous 1 c.2988+1GNA 3120+1GNA Heterozygous 1 c.4243-5CNT 4375-5CNT CF patient DNA samples were screened at the CFTR genetic locus using sequencing with bidirectional confirmation and reflex to MLPA deletion/ duplication analysis. Login to comment 197 ABCC7 p.Arg117His Other CFTR/ SCNN1 mutation combinations included one patient with CFTR p.Arg117His and p.Cys618Phe in SCNN1A and one patient with CFTR p.Phe508del and p.Gly183Ser in SCNN1G. Login to comment