ABCMdb

PMID: 10099982

Dohle GR, Veeze HJ, Overbeek SE, van den Ouweland AM, Halley DJ, Weber RF, Niermeijer MF
The complex relationships between cystic fibrosis and congenital bilateral absence of the vas deferens: clinical, electrophysiological and genetic data.
Hum Reprod. 1999 Feb;14(2):371-4., [PubMed]

Sentences

No. Mutations Sentence Comment

24 ABCC7 p.Arg117His Recently, the R117H mutation, a rare mutation in CF patients, was found to occur frequently in CBAVD patients (Gervais et al., 1993). Login to comment 58 ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Ser1251Asn CFTR mutation analysis was performed for 10 mutations: we analysed for the mutations R117H, A455E, ∆F508, 1717-1G→A, G542X, R553X, R1162X, S1251N, W1282X, and N1303K. Login to comment 75 ABCC7 p.Arg117His ABCC7 p.Arg553* The ∆F508 mutation was found in eight patients, R117H in six, A445E in three and 1717-1G→A and R553X both in one. Login to comment 76 ABCC7 p.Arg117His ABCC7 p.Arg117His Three partners were found to have a single CFTR gene mutation (R117H, R117H, ∆F508). Login to comment 80 ABCC7 p.Arg117His Age History tests Laboratory Sweat ICM CFTR mutations T-stretch Remarks (years) Cl-/Naϩ test intron 8 1 36 NA NA 38/46 CF response (I) ∆F508/R117H 9/7 Non-Caucasian 2 27 Sinusitis/fat intol. Login to comment 81 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Arg553* Chymotr.Ͻ 23/22 CF response (I) ∆F508/R117H 9/7 CF in family 3 33 CARA/oily stools GgtϾ,Chymotr.Ͻ 23/36 CF response (I) ∆F508/- 9/7 4 31 Pelvic re kidney NA 10/22 CF response (I) -/- 7/7 5 32 Sinusitis/nasal Chymotr.Ͻ 50/52 CF low residual (II) A455E/- 9/5 Partner ∆dF508 polyps 6 38 NA NA 40/43 CF high residual (III) A445E/R117H 9/7 7 27 NA GgtϾ,Chymotr.Ͻ 28/44 CF high residual (III) R117H/R553X 7/7 Partner R117H 8 38 Nasal polyps NA 34/51 CF high residual (III) ∆F508/R117H 9/7 Pertussis 9 36 NA NA 58/70 CF high residual (III) ∆F508/- 9/5 10 31 NA GgtϾ 54/70 CF high residual (III) ∆F508/- 9/5 Partner R117H 11 32 Maldescended GgtϾ 16/34 CF high residual (III) -/- 9/7 Single kidney in family testis 12 35 NA NA 14/21 Inconclusive ∆F508/- 9/7 13 29 NA NA 43/70 Normal response (IV) A455E/R117H 9/7 14 38 NA NA 32/55 Normal response (IV) R117H/1717-1→G→A 7/7 15 29 NA GgtϾ 44/66 Normal response (IV) ∆F508/R117H 9/7 16 28 NA NA 42/48 Normal response (IV) R117H/- 7/7 17 36 NA NA 22/44 Normal response (IV) -/- 7/5 Non-Caucasian 18 34 NA NA 57/30 Normal response (IV) -/- 7/7 Non-Caucasian 19 39 NA NA 36/52 Normal response (IV) -/- 7/7 Non-Caucasian 20 31 NA NA 16/30 Normal response (IV) -/- 7/7 Non-Caucasian 21 34 NA NA 20/41 Normal response (IV) -/- 7/7 NA ϭ no abnormalities, GgT ϭ gamma glutamyl transpeptidase, Chymotr. Login to comment 90 ABCC7 p.Arg117His Other mutations, like R117H, are associated with a milder form of CF where conductive chloride transport is defective, but not absent (Gervais et al., 1993). Login to comment 92 ABCC7 p.Arg117His Mutations with a low frequency in classic CF, such as R117H, were found to occur regularly in CBAVD (Gervais et al., 1993). Login to comment