ABCMdb

PMID: 12009340

Robert F, Bey-Omar F, Rollet J, Lapray JF, Morel Y
Relation between the anatomical genital phenotype and cystic fibrosis transmembrane conductance regulator gene mutations in the absence of the vas deferens.
Fertil Steril. 2002 May;77(5):889-96., [PubMed]

Sentences

No. Mutations Sentence Comment

60 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* In 950 unrelated chromosomes, the incidences of ⌬F508, G542X and N1303K mutations were 69%, 4.6% and 2.7% respectively (15, 16; unpublished data). Login to comment 65 ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Methods used to detect these mutations were [1] heteroduplex formation followed by polyacrylamide gel electrophoresis (⌬F508, ⌬I507, 508C, and 1612delTT in exon 10 and 2183AA3G, 2184delA, and 2347delG in exon 13), [2] digestion with appropriate restriction enzymes, that is, MnlI for W1282X (exon 20) and SspI for 2789ϩ5G3A (exon 14b), and [3] PCR with the modified primers MvaI for G542X (exon 11) and N1303K (exon 21), AvaII for 1717-1G3A (exon 11), and HaII for R117H (exon 4) to create a new restriction site. Login to comment 81 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg347His Three patients had two CFTR gene mutations: two had the severe mutation ⌬F508 associated with the mild mutation R117H, and one had two mild mutations (R117H and R347H). Login to comment 108 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg347His ABCC7 p.Asp1270Asn Patient Mutations Intron 8 Phenotype Seminal vesicle Epididymis Testicular volume (right/left) (mL) Comments 1 ⌬F508/R117H 7T/9T BAVD A/D C/C 20/20 2 ⌬F508/R117H 7T/9T BAVD A/A E/C 15/12 3 R117H/R347H 7T/9T BAVD A/D E/E 15/15 Compound heterozygote 4 ⌬F508/o 5T/7T BAVD A/h C/C 10/13 Compound heterozygote 5 ⌬F508/o 5T/9T BAVD A/A E/E 16/17 Compound heterozygote 6 ⌬F508/o 5T/9T BAVD A/D E/E 15/15 7 ⌬F508/o 5T/9T BAVD A/A E/E 11/9 8 ⌬F508/o 5T/9T BAVD h/h E/E 20/20 9 ⌬F508/o 5T/9T BAVD A/A C/C 17/9 10 ⌬F508/o 5T/9T BAVD D/A E/E 15/12 11 ⌬F508/o 5T/9T BAVD A/D E/E 10/12 12 ⌬F508/o 7T/9T BAVD A/N C/E 20/20 13 ⌬F508/o 7T/7T BAVD A/A E/E 20/18 14 ⌬F508/o 7T/7T BAVD h/h E/E 10/9 15 ⌬F508/o 9T/9T BAVD A/D C/C 23/26 16 1612delTT/o 7T/9T BAVD A/D C/C 8/7 17 D1270N/o 7T/7T BAVD A/A E/E 12/13 18 R117H/o 7T/7T BAVD A/D E/E 20/18 19 2789ϩ5GBA/o 7T/7T BAVD A/A C/C 18/13 20 o/o 5T/5T BAVD D/A E/E 8/10 21 o/o 5T/9T BAVD A/A C/E 20/18 22 o/o 5T/7T BAVD A/A E/E 20/20 23 o/o 5T/9T BAVD A/A E/E 9/10 24 o/o 5T/7T BAVD A/D E/E 10/10 25 o/o 5T/7T BAVD A/A E/E 9/10 26 o/o 5T/9T BAVD A/D E/A 12/0 Left testicular atrophy 27 o/o 5T/7T BAVD A/A C/E 9/8 28 o/o 7T/7T BAVD A/A E/E 15/15 29 o/o 7T/7T BAVD A/h E/E 11/11 30 o/o 9T/9T BAVD h/h C/C 7/8 31 o/o 7T/7T BAVD h/A E/E 12/12 32 o/o 7T/7T BAVD A/A E/C 10/10 33 o/o 7T/9T BAVD A/A E/E 11/12 34 o/o 7T/7T BAVD h/A C/C 9/9 35 o/o 7T/7T BAVD A/D C/A 10/11 Bilateral dilatation of rete testis 36 o/o 7T/7T BAVD A/D C/C 12/12 37 o/o 7T/9T BAVD A/A C/E 15/15 38 o/o 7T/7T BAVD D/A C/C 12/15 39 o/o 7T/7T BAVDϩURA A/A C/C 12/12 40 o/o 7T/7T BAVDϩURA D/A A/C 0/20 Right testis absent 41 o/o 5T/9T UAVD D/A E/E 13/13 42 o/o 5T/7T UAVD D/A E/C 8/10 Right testicular hypotrophy 43 o/o 5T/7T UAVD h/N E/E 7/8 44 o/o 7T/7T UAVD A/D E/A 12/0 Left cryptorchidism 45 o/o 7T/7T UAVD D/A E/E 4/5 Bilateral testicular hypotrophy 46 o/o 7T/7T UAVD h/h E/E 8/8 47 o/o 7T/7T UAVDϩURA D/A E/E 15/15 Note: A ϭ absent; D ϭ dilated; C ϭ caput only; E ϭ whole; h ϭ hypotrophic; N ϭ normal; o ϭ no detected mutation; BAVD ϭ bilateral absence of the vas deferens; UAVD ϭ unilateral absence of the vas deferens; URA ϭ unilateral renal agenesis. Robert. Absence of the vas deferens. Login to comment 116 ABCC7 p.Arg117His Mutation Cystic fibrosis chromosome (n ϭ 950) (%) CBAVD chromosome (n ϭ 54) (%) CUAVD chromosome (n ϭ 6) (%) General population (%)a ⌬F 508b 69 25.9 0 1.4 G542Xb 4.6 0 0 - N1303Kb 2.7 0 0 - 1717-1GϾAb 0.9 0 0 - R117H 0.3 7.4 0 - 5T - 31.5 50 5.2 Note: CBAVD ϭ congenital bilateral absence of the vas deferens; CUAVD ϭ congenital unilateral absence of the vas deferens. Login to comment 135 ABCC7 p.Gly542* The fetuses had the ⌬F508/⌬F508 and ⌬F508/G542X genetic mutations. Login to comment