PMID: 20494257

Dungan JS
Carrier screening for cystic fibrosis.
Obstet Gynecol Clin North Am. 2010 Mar;37(1):47-59, Table of Contents., [PubMed]
Sentences
No. Mutations Sentence Comment
58 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 20494257:58:25
status: NEW
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When found in cis to the R117H mutation, (ie, is on the same chromosome), the effect can be identical to a ''severe`` mutation, and thus if this combination exists in conjunction with a classic CFTR mutation, one would predict full manifestations of classic CF. Login to comment
59 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 20494257:59:7
status: NEW
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If the R117H mutation exists with the normal 7T (or 9T) allele, the effect is dampened. Login to comment
63 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 20494257:63:59
status: NEW
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However, it is important to perform poly-T analysis if the R117H mutation is identified, as this combination (in cis) is considered a ''severe`` CF mutation. Login to comment
102 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 20494257:102:303
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 20494257:102:309
status: NEW
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ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 20494257:102:390
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 20494257:102:368
status: NEW
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ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 20494257:102:279
status: NEW
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ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 20494257:102:362
status: NEW
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ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 20494257:102:260
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 20494257:102:406
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 20494257:102:273
status: NEW
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ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 20494257:102:266
status: NEW
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ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 20494257:102:423
status: NEW
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ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 20494257:102:315
status: NEW
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However, in instances of a positive family history of affected individuals, but with no known mutation, further Table 2 Mutation panel recommended by ACOG and ACMG (listed in order of decreasing frequency in non-Hispanic Caucasian population) F508 del delI507 R347P R1162X G542X R553X 71111G>T 2184delA G551D R117H R560T 189811G>A 62111G>T 3849110kbC>T 3569delC R334W W1282X 1717À1G>T A455E 312011G>T N1303K 278915G>A G85E Data from Watson MS, Cutting GR, Desnick RJ, et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Login to comment
111 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 20494257:111:121
status: NEW
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The ACMG guidelines on CF carrier testing state that intron 8 poly-T analysis should be reported only as a reflex if the R117H allele is found (see section on ''severe`` versus ''mild`` alleles). Login to comment
112 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 20494257:112:139
status: NEW
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Despite the lack of predictable or consistent phenotype associated with the 5T intron 8 allele in conjunction with any mutation other than R117H, a considerable number of laboratories performing carrier testing for CF in the United States still report the 5T allele on all specimens.16 This activity has led to unnecessary invasive prenatal testing whereby parents are not at risk of having a child with CF, and misunderstand the significance (or lack thereof) of the 5T allele.17,18 While such situations are generally rare, these events reflect the complexity of carrier testing strategies for this particular disorder, and the continued need for provider education. Login to comment
150 ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 20494257:150:267
status: NEW
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The Society of Obstetricians and Gynaecologists of Canada has stated routine CF carrier screening ''cannot be recommended at this time.``22 Two mutations were subsequently deleted from the original 2001 recommendation as a result of further epidemiologic data.13 The I148T mutation was subsequently found not to be disease causing (it was originally considered so because of the erroneous perception of its frequent appearance with 3199del6, a rare, but confirmed CF mutation). Login to comment