PMID: 21658649

Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E, Sermet I, Schwarz M, Tzetis M, Wilschanski M, Bareil C, Bilton D, Castellani C, Cuppens H, Cutting GR, Drevinek P, Farrell P, Elborn JS, Jarvi K, Kerem B, Kerem E, Knowles M, Macek M Jr, Munck A, Radojkovic D, Seia M, Sheppard DN, Southern KW, Stuhrmann M, Tullis E, Zielenski J, Pignatti PF, Ferec C
Recommendations for the classification of diseases as CFTR-related disorders.
J Cyst Fibros. 2011 Jun;10 Suppl 2:S86-102., [PubMed]
Sentences
No. Mutations Sentence Comment
56 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 21658649:56:60
status: NEW
view ABCC7 p.Arg117His details
Moreover, this list is too loose, because it includes the p.R117H mutation that is most often associated with no disease when identified by newborn screening [14]. Login to comment
64 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 21658649:64:21
status: NEW
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The example of the p.R117H mutation demonstrates clearly that it is inappropriate to rely solely on IRT results and mutation analysis [14]. Login to comment
106 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 21658649:106:159
status: NEW
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The two most common compound heterozygous genotypes found in European males with CBAVD are p.F508del in trans with IVS8-5T (28%) and p.F508del in trans with p.R117H (6%). Login to comment
120 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 21658649:120:69
status: NEW
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The IVS8-5T allele is also a genetic modifier of the mild mutation p.R117H when they are associated in cis. Login to comment
121 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 21658649:121:24
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 21658649:121:60
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 21658649:121:118
status: NEW
view ABCC7 p.Arg117His details
Thus, the combination p.R117H-7T is often found in CBAVD, p.R117H-5T is frequently found in CF-PS patients, whereas p.R117H-9T is generally not associated with disease [58]. Login to comment
129 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 21658649:129:182
status: NEW
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ABCC7 p.Phe508Cys
X
ABCC7 p.Phe508Cys 21658649:129:142
status: NEW
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Occasionally, rare variants of IVS8-Tn alleles have been identified in CBAVD males, including for example cases of IVS8-T3-TG12 in trans with F508C [54], IVS8-T2- TG13 in trans with R117H-TG11T9 [63] and IVS8-T6 [64,65]. Login to comment
137 ABCC7 p.Gly576Ala
X
ABCC7 p.Gly576Ala 21658649:137:1
status: NEW
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[G576A;R668C], p. Login to comment
138 ABCC7 p.Asp443Tyr
X
ABCC7 p.Asp443Tyr 21658649:138:1
status: NEW
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[D443Y;G576A;R668C], p. Login to comment
139 ABCC7 p.Arg74Trp
X
ABCC7 p.Arg74Trp 21658649:139:1
status: NEW
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ABCC7 p.Ser1235Arg
X
ABCC7 p.Ser1235Arg 21658649:139:24
status: NEW
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[R74W;V201M;D1270N] and S1235R-IVS8-5T [37,38,66, 68]. Login to comment
213 ABCC7 p.Leu997Phe
X
ABCC7 p.Leu997Phe 21658649:213:118
status: NEW
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Remarkably, in all three affected individuals, the SPINK1 deletion was found to be co-inherited with a heterozygous p.L997F missense mutation in the unlinked CFTR gene [121]. Login to comment
214 ABCC7 p.Leu997Phe
X
ABCC7 p.Leu997Phe 21658649:214:21
status: NEW
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ABCC7 p.Leu997Phe
X
ABCC7 p.Leu997Phe 21658649:214:237
status: NEW
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Heterozygosity for p.L997F had been previously reported in association with a variety of different conditions including ICP, disseminated bronchiectasis, primary sclerosing cholangitis, and hypertrypsinemia, but there is evidence that p.L997F is not a CF causing mutation [122]. Login to comment
215 ABCC7 p.Leu997Phe
X
ABCC7 p.Leu997Phe 21658649:215:94
status: NEW
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Given that deletion of the entire SPINK1 gene is disease-causing in its own right, the CFTR p.L997F missense mutation (which has a frequency of <1% in the French population) might simply be acting as a disease modifier, at least in the context of this particular family [121]. Login to comment
217 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 21658649:217:55
status: NEW
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In one study [123], three CFTR mutations (p.F508del, p.G542X and c.579+1G>T (previously named 711+1G>T)) were detected in 8.9% of 449 ACP patients, although the mutation detection rate was not significantly different from that observed in patients with alcoholic liver disease (3.0%) nor that expected in the geographical area under investigation (3.2%). Login to comment
323 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 21658649:323:151
status: NEW
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ABCC7 p.Pro574His
X
ABCC7 p.Pro574His 21658649:323:194
status: NEW
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ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 21658649:323:181
status: NEW
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ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 21658649:323:161
status: NEW
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ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 21658649:323:171
status: NEW
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Using biochemical (N) and functional (i and Po) data, the apical CFTR Cl- current generated by the CF-PI mutant p.F508del-CFTR and the CF-PS mutants p.R117H-, p.R334W-, p.R347P-, p.A455E- and p.P574H-CFTR were predicted [166,167]. Login to comment
332 ABCC7 p.Pro574His
X
ABCC7 p.Pro574His 21658649:332:32
status: NEW
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For example, the CF-PS mutant p.P574H-CFTR disrupts CFTR processing, albeit not as severely as p.F508del-CFTR, but generates a CFTR Cl-channel with a Po value greater than that of wild-type CFTR [167]. Login to comment