ABCMdb

PMID: 12794695

Timmreck LS, Gray MR, Handelin B, Allito B, Rohlfs E, Davis AJ, Gidwani G, Reindollar RH
Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina.
Am J Med Genet A. 2003 Jul 1;120A(1):72-6., 2003-07-01 [PubMed]

Sentences

No. Mutations Sentence Comment

8 ABCC7 p.Trp1282* One was heterozygous for the W1282X mutation and the other was heterozygous for the DF508 mutation. Login to comment 39 ABCC7 p.Trp1282* Genomic DNA was used as a template in several polymerase TABLE I. Summary of Patients With CAUV Analyzed for CFTR Mutations Patient Renal system Skeleton Hearing Karyotype Affected relatives CFTR mutations 479 Normal Normal Normal 46,XX autosomal translocation None N/N 484 Normal Normal Normal 46,XX Sister N/N 485 Normal Normal Normal 46,XX Sister N/N 489 Normal Absent 12th ribs, L5 sacralization Normal 46,XX None N/N 504 Unknown Unknown Unknown Unknown Unknown N/Na 524 Renal agenesis Normal Normal 46,XX None N/N 575 Normal Normal Normal Unknown None N/Na 593 Unknown Normal Normal Unknown None N/Na 594 Normal Normal Normal Unknown None N/Na 595 Normal Normal Normal 46,XX None N/N 686 Unknown Normal Normal Unknown None N/N 687 Renal agenesis Thoracolumbar dextroscoliosis Normal 46,XX None N/N 688 Normal Normal Normal Unknown None N/W1282X 704 Normal Normal Normal 46,XX None N/N 705 Normal Normal Normal Unknown None N/DF508 706 Normal Normal Normal Unknown None N/N 707 Unknown Unknown Unknown Unknown Unknown N/N 708 Normal Normal Normal Unknown None N/N 709 Horseshoe kidney Scoliosis, abnormal left thumb Absent Unknown None N/N 710 Normal Normal Normal Unknown None N/N 715 Unknown Normal Normal Unknown None N/N 716 Unknown Normal Normal Unknown None N/N 717 Unknown Unknown Unknown Unknown Unknown N/N 739 Normal Normal Normal Unknown None N/N CH92-138 Normal Mild scoliosis Normal 46,XX autosomal translocation None N/N N, no mutations. Login to comment 54 ABCC7 p.Trp1282* One patient was heterozygous for the DF508 mutation, and another was heterozygous for the W1282X mutation. Login to comment 69 ABCC7 p.Asp1270Asn ABCC7 p.Gly149Arg ABCC7 p.Arg258Gly ABCC7 p.Gly576Ala ABCC7 p.Ala800Gly ABCC7 p.Glu193Lys Mutations continue to be identified in association with CBAVD: A800G, G149R, R258G, E193K [Mercier et al., 1995], D1270N, and G576A [Ravnik-Glavac et al., 2000], to name a few. Login to comment 82 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Gln493* ABCC7 p.Val520Phe ABCC7 p.Ser549Arg ABCC7 p.Gly85Glu ABCC7 p.Ser549Asn ABCC7 p.Tyr122* ABCC7 p.Arg560Thr ABCC7 p.Tyr1092* CFTR Gene Mutations Tested DF508 R334W Y1092X 5T variant Y122X R347H G542X S549R 3,849 þ 4 G551D 3,849 þ 10 kb 2,789 þ 5 W1282X R553X 711 þ 1 3,905 þ T 621 þ 1 1,898 þ 1 N1303K 1,717À1 R1162X R117H 1078dT A455E D1507 Q493X 218dA R347P V520F G85E R560T S549N 3659dC Wolffian duct must occur at a time when the Mu¨llerian duct is no longer dependent on the Wolffian duct for development. Login to comment