ABCMdb

PMID: 15832355

Castellani C, Picci L, Scarpa M, Dechecchi MC, Zanolla L, Assael BM, Zacchello F
Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers.
Am J Med Genet A. 2005 Jun 1;135(2):142-4., 2005-06-01 [PubMed]

Sentences

No. Mutations Sentence Comment

15 ABCC7 p.Arg117His ABCC7 p.Trp1282* The genetic analysis detected 4 affected (F508del/F508del; F508del/1717-1G > A; 2183AA > G/711 þ 5G > A; W1282X/R117H; CF incidence 1/ 2,500) and 294 heterozygous infants (carrier frequency 1/34) (Table I). Login to comment 22 ABCC7 p.Gly85Glu A and G85E were not included in any of these two subgroups as they are inconsistently linked to pancreatic sufficiency. Login to comment 23 ABCC7 p.Arg334Gln A similar comparison was made between two subgroups including, respectively, 247 carriers of class I, II, and III mutations (in fact the same as in the pancreatic insufficiency mutation group) and 43 carriers of class IV and V mutations [Welsh and Smith, 1993]; mutation R334Q was not included because of difficulties in allocating it to a specific class. Login to comment 40 ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu ABCC7 p.Thr338Ile ABCC7 p.Gln552* ABCC7 p.Arg334Gln ABCC7 p.Arg334Gln ABCC7 p.Arg709* Distribution and Classification of the Tested Mutations in the Normal IRT Heterozygote Population Under Study Mutations Type of mutation Class of mutation Number of cases F508del Severe II 161 N1303K Severe II 19 G542X Severe I 19 711 þ 5G > A - V 15 R117H Mild IV 13 R1162X Severe I 13 R553X Severe I 11 G85E - IV 8 2183AA > G Severe I 8 1717-1G > A Severe I 8 R334Q Mild - 4 Q552X Severe I 4 W1282X Severe I 3 2789 þ 5G > A Mild V 2 1898 þ 3A > G Mild V 2 T338I Mild IV 1 R709X Severe I 1 R347H Mild IV 1 3849 þ 10KbC > T Mild V 1 Total 294 Other tested mutations: 1078delTn1609delCAn1717-8g/an394delTTn457TAT> Gn541delCn621 þ 1g/tn711 þ 1g/tnA559TnDI507nG551DnR1158XnR334Wn R347PnR352QnS549InS549NnS549Ra/cn2790-2G > An1811 þ 1.2KbA > G; 711þ5G > A and G85E not categorized in type of mutation; R334Q not categorized in class of mutation. Login to comment