ABCC7 p.Leu320Phe
| ClinVar: |
c.959T>A
,
p.Leu320*
?
, not provided
c.960A>T , p.Leu320Phe ? , not provided c.958T>G , p.Leu320Val D , Likely pathogenic |
| CF databases: |
c.958T>G
,
p.Leu320Val
(CFTR1)
D
, The above mutation was detected by DGGE using chemical clamps and identified by direct sequencing. It is not found in 100 other non-[delta]F508 CF chromosomes and 100 non-CF chromosomes tested. The patient is presented with congenital absence of vas deferens and has [delta]F508 on the other chromosome.
c.960A>T , p.Leu320Phe (CFTR1) ? , The L320F mutation was detected in aCzech 8 year old male CF patient. His other CF allele has not been identified thus far. This mutation was not detected by ASO hybridization on 144 non-CF chromosomes of Czech parents. The diagnosis of CF was raised in the first year of life due to malabsorption with repeated bronchopneumonias, and finally substantiated by sweat chloride concentrations of 36, 38 and 55 mM. The patient also suffers from generalized eczema with pronounced blood eosinophilia. |
| Predicted by SNAP2: | A: N (82%), C: N (87%), D: D (75%), E: D (53%), F: N (53%), G: D (53%), H: N (72%), I: N (87%), K: D (59%), M: N (82%), N: N (53%), P: D (63%), Q: N (61%), R: D (59%), S: N (72%), T: N (66%), V: N (93%), W: D (66%), Y: N (61%), |
| Predicted by PROVEAN: | A: N, C: N, D: D, E: D, F: N, G: D, H: D, I: N, K: N, M: N, N: D, P: D, Q: N, R: D, S: N, T: N, V: N, W: D, Y: N, |
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[hide] Gender-sensitive association of CFTR gene mutation... Mol Hum Reprod. 2005 Aug;11(8):607-14. Epub 2005 Aug 26. Morea A, Cameran M, Rebuffi AG, Marzenta D, Marangon O, Picci L, Zacchello F, Scarpa M
Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility.
Mol Hum Reprod. 2005 Aug;11(8):607-14. Epub 2005 Aug 26., [PMID:16126774]
Abstract [show]
Human infertility in relation to mutations affecting the cystic fibrosis transmembrane regulator (CFTR) gene has been investigated by different authors. The role of additional variants, such as the possible forms of the thymidine allele (5T, 7T and 9T) of the acceptor splice site of intron 8, has in some instances been considered. However, a large-scale analysis of the CFTR gene and number of thymidine residues, alone and in combination, in the two sexes had not yet been addressed. This was the aim of this study. Two groups were compared, a control group of 20,532 subjects being screened for perspective reproduction, and the patient group represented by 1854 idiopathically infertile cases. Analyses involved PCR-based CFTR mutations assessment, reverse dot-blot IVS8-T polymorphism analyses, denaturing gradient gel electrophoresis (DGGE) and DNA sequencing. The expected 5T increase in infertile men was predominantly owing to the 5/9 genotypic class. The intrinsic rate of 5T fluctuated only slightly among groups, but some gender-related differences arose when comparing their association. Infertile men showed a significantly enriched 5T + CFTR mutation co-presence, distributed in the 5/9 and 5/7 classes. In contrast, females, from both the control and the infertile groups, showed a trend towards a pronounced reduction of such association. The statistical significance of the difference between expected and observed double occurrence of 5T + CFTR traits in women suggests, in line with other reports in the literature, a possible survival-hampering effect. Moreover, regardless of the 5T status, CFTR mutations appear not to be involved in female infertility. These results underline the importance of (i) assessing large sample populations and (ii) considering separately the two genders, whose genotypically opposite correlations with these phenomena may otherwise tend to mask each other.
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No. Sentence Comment
76 This test involved nine subjects from the infertile group, revealing the occurrence of the following rare mutations: E217G, T1054A, W356X, D443Y and 3667insTC in males and L997F and R297Q in females and 29 subjects from the control, in which we found: A1009T, D110Y, E826K, G1069R, G1130A, G194V, I556V, L320F, M348K, M82V, P1290T, R117C, R352W, R74W, S42F, S660T, S911R, S912L, T1086A, T582S, V920L and Y89C.
X
ABCC7 p.Leu320Phe 16126774:76:307
status: NEW