ABCMdb

PMID: 9401006

Shrimpton AE, Borowitz D, Swender P
Cystic fibrosis mutation frequencies in upstate New York.
Hum Mutat. 1997;10(6):436-42., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCC7 p.Arg1070Pro ABCC7 p.Asn287Tyr Four novel CFTR disease-causing mutations were identified (N287Y in exon 6b, 1259insA in exon 8, R1070P in exon 17b, and CF?20kbdel14b-18). Login to comment 67 ABCC7 p.Gly551Asp ABCC7 p.Asn1303Lys The three known CF disease-causing mutations not detected by either SSCA or HA were (Y122X(T>A) in exon 4, G551D (G>A) in exon 11 and N1303K (C>G) in exon 21. Login to comment 74 ABCC7 p.Tyr1092* Y1092X (Bozon et al., 1994) in exon 17b was detected twice in the Buffalo CF patients, probably reflecting French-Canadian ancestry. Login to comment 82 ABCC7 p.Asn287Tyr Novel Disease-Causing Mutations N287Y (991A>T) This individual, who is of Italian and German/Irish extraction, was diagnosed at 3 1/2 years of age when referred because of rectal prolapse; his sweat Cl was TABLE 2. Login to comment 84 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly85Glu ABCC7 p.Arg1070Pro ABCC7 p.Asn287Tyr % Comment 3 G85E 1 1 0.5 4 R117H 1 1 0.5 i4 621 + 1,G>T 1 2 3 1.5 5 711 + 1,G>T 1 1 0.5 6b N287Y 1 1 0.5 Novel 7 1154insTC 2 2 1.0 8 1259insA 1 1 0.5 Novel 9 A455E 1 1 0.5 10 Delta F508 109 39 148 74.0 10 1609delCA 1 1 0.5 Spanish i10 1717-1,G>A 3 3 1.5 11 G542X 2 1 3 1.5 11 G551D 3 3 1.5 11 R553X 4 4 2.0 i12 1898+1,G>A 2 2 1.0 13 2143delT 1 1 0.5 13 2184delA+G>A 1 1 0.5 i14 2789+5,G>A 2 2 1.0 17b R1070P 1 1 0.5 Novel 17b Y1092X(C>A) 2 2 1.0 French Canadian (Rozen et al., 1992) 17b CF?20kbdel 14b-18 1 1 0.5 Novel (Shrimpton and Borowitz, 1997) i19 3849+10kb,C>T 1 1 0.5 20 W1282X 2 2 0.5 Ashkenazi 21 N1303K 3 3 6 3.0 Unknown 4/144 4/56 8/200 4.0 AL. 75 and 81 mMol/L. Login to comment 85 ABCC7 p.Asn287Tyr This patient was a compound heterozygote for the Delta F508 (Kerem et al., 1989) in exon 10 and a novel CF mutation N287Y (Asn to Tyr) in exon 6b, which could be detected by the use of a restriction site-generating primer. Login to comment 86 ABCC7 p.Asn287Tyr N287Y can be detected by artificial Dra I site-generating PCR amplification using the N287Ymis and 6B-i3 primers (Table 1b). Login to comment 94 ABCC7 p.Arg1070Pro R1070P (3341G>C) This 26-year-old individual of Polish extraction with mild CF presented at age 11 with nasal polyps. Login to comment 97 ABCC7 p.Arg1070Pro This individual is a compound heterozygote for the 2143delT (Dörk et al., 1992) and the novel R1070P (exon 17b; this study) CF mutations. Login to comment 98 ABCC7 p.Arg1070Pro R1070P is a previously undescribed CF disease-causing mutation detected by SSCA of exon 17b. Login to comment 99 ABCC7 p.Arg1070Pro R1070P is believed to be a disease-causing mutation as the amino acid change is nonconservative (ArgeninetoProline)inthesecondnucleotidedomain and because this amino acid is altered in two other CF mutations.Mercieretal. Login to comment