ABCMdb

ABCC7 p.Val938Gly

ClinVar:	c.2813T>G , p.Val938Gly D , Likely pathogenic
CF databases:	c.2813T>G , p.Val938Gly (CFTR1) D , V938G was identified in two patients, one homozygote with CUAVD, and one heterozygote with CBAVD and carrying the previously reported 174delA mutation. c.2812G>C , p.Val938Leu (CFTR1) ? , This change has been detected by DGGE analysis and direct sequencing in one Spanish chromosome
Predicted by SNAP2:	A: N (66%), C: N (82%), D: D (71%), E: D (66%), F: N (82%), G: D (66%), H: N (53%), I: N (93%), K: D (71%), L: N (78%), M: N (72%), N: D (53%), P: D (71%), Q: N (57%), R: D (75%), S: N (53%), T: N (57%), W: D (75%), Y: D (59%),
Predicted by PROVEAN:	A: N, C: N, D: D, E: D, F: N, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: N, R: D, S: N, T: N, W: N, Y: N,

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[hide] CFTR gene mutations and male infertility. Andrologia. 2000 Mar;32(2):71-83. Stuhrmann M, Dork T
CFTR gene mutations and male infertility.
Andrologia. 2000 Mar;32(2):71-83., [PMID:10755189]

Abstract [show]
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are a relatively frequent cause of male infertility. Depending on their molecular consequences, CFTR mutations may either result in typical cystic fibrosis (CF), one of the most common autosomal recessive disorders, which is characterized by chronic lung disease, pancreatic exocrine insufficiency, an increase in the concentration of sweat electrolytes and male infertility, due to obstructive azoospermia, or in atypical (often monosymptomatic) forms of CF such as congenital absence of the vas deferens (bi- or unilateral), bilateral ejaculatory duct obstruction or bilateral obstructions within the epididymides. All males with idiopathic obstructive azoospermia bear an increased risk for CF offspring. Couples requesting microsurgical epididymal sperm aspiration and in vitro fertilization, e.g. intracytoplasmic sperm injection, should be offered genetic counselling and molecular genetic analysis of the CFTR gene, if male infertility due to obstructive azoospermia is the underlying cause.

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125 In our own study of five CUAVD males, three had mu- CFTR mutations and spermatogenesis tations on both CFTR alleles (DF508/R117H, Although male infertility in typical or atypical DF508/IVS8-5T, V938G/V938G), one was het- (genital forms of ) CF is primarily due to obstruc- erozygous for DF508, and in only one patient was tion or absence of vas deferens, epididymis and/or no CFTR mutation detected after screening the ejaculatory duct, the question remains as to entire coding region and flanking sequences of the whether mutations in the CFTR gene may also CFTR gene (Do¨rk et al., 1997). Login to comment

[hide] Detection of cystic fibrosis transmembrane conduct... Hum Reprod. 2007 May;22(5):1285-91. Epub 2007 Feb 28. Ratbi I, Legendre M, Niel F, Martin J, Soufir JC, Izard V, Costes B, Costa C, Goossens M, Girodon E
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
Hum Reprod. 2007 May;22(5):1285-91. Epub 2007 Feb 28., [PMID:17329263]

Abstract [show]
BACKGROUND: Mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene have been widely detected in infertile men with congenital bilateral absence of the vas deferens (CBAVD). Despite extensive analysis of the CFTR gene using varied screening methods, a number of cases remain unsolved and could be attributable to the presence of large gene rearrangements, as recently shown for CF patients. METHODS: We carried out a complete CFTR gene study in a group of 222 CBAVD patients with strict diagnosis criteria and without renal anomaly, and searched for rearrangements using a semi-quantitative assay in a subgroup of 61 patients. RESULTS: The overall mutation detection rate was 87.8%, and 82% of patients carried two mutations. Ten out of the 99 different mutations accounted for 74.6% of identified alleles. Four large rearrangements were found in patients who already carried a mild mutation: two known partial deletions (exons 17a to 18 and 22 to 23), a complete deletion and a new partial duplication (exons 11 to 13). The rearrangements accounted for 7% of the previously unknown alleles and 1% of all identified alleles. CONCLUSIONS: Screening for rearrangements should be part of comprehensive CFTR gene studies in CBAVD patients and may have impacts on genetic counselling for the patients and their families.

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62 Patient #2, heterozygous for the mild V938G missense mutation, had a deletion of exons 22 and 23, for which sequencing analysis showed the same breakpoints as those previously described (Audre´zet et al., 2004). Login to comment
89 1 [V938G] þ [?] Login to comment
113 Phenotype and genotype data of patients carrying CFTR rearrangements Patient Current age (years) Origin Allele 1 Allele2 Reference Simple name Extent 1 45 Syria (TG)12(T)5 CFTRdele17a_18 8.6 kb deletion Lerer et al. (1999) 2 33 France/Southern Italy V938G CFTRdele22_23 1.5 kb deletion Audre´zet et al. (2004) 3 47 France R117H CFTRdele1_24 3 Mb deletion This study and Niel et al. (2004) 4 34 Morocco (TG)12(T)5 CFTRdup11_13 Unknown (4.9-35.2 kb duplication) This study Figure 1. Login to comment

[hide] Best practice guidelines for molecular genetic dia... Eur J Hum Genet. 2009 Jan;17(1):51-65. Epub 2008 Aug 6. Dequeker E, Stuhrmann M, Morris MA, Casals T, Castellani C, Claustres M, Cuppens H, des Georges M, Ferec C, Macek M, Pignatti PF, Scheffer H, Schwartz M, Witt M, Schwarz M, Girodon E
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.
Eur J Hum Genet. 2009 Jan;17(1):51-65. Epub 2008 Aug 6., [PMID:18685558]

Abstract [show]
The increasing number of laboratories offering molecular genetic analysis of the CFTR gene and the growing use of commercial kits strengthen the need for an update of previous best practice guidelines (published in 2000). The importance of organizing regional or national laboratory networks, to provide both primary and comprehensive CFTR mutation screening, is stressed. Current guidelines focus on strategies for dealing with increasingly complex situations of CFTR testing. Diagnostic flow charts now include testing in CFTR-related disorders and in fetal bowel anomalies. Emphasis is also placed on the need to consider ethnic or geographic origins of patients and individuals, on basic principles of risk calculation and on the importance of providing accurate laboratory reports. Finally, classification of CFTR mutations is reviewed, with regard to their relevance to pathogenicity and to genetic counselling.

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144 A (T)5 variant can either be associated with (TG)11, (TG)12, (TG)13, and rarely (TG)15 repeats.74 When (T)5 is found in diagnostic testing, for example, for CBAVD or atypical presentation, determination of Table 4 Classification of CFTR mutations with regard to their potential for causing disease Mutation group Examples CF-causing F508del Mainly nonsense, frameshift, splicing (invariant dinucleotide): G542X, R553X, W1282X, 2183AA4G, 3659delC, 1717-1G4A, 3120+1G4A Missense that severely affects CFTR synthesis or function: G551D, N1303K, R347P 2789+5G4A, 3849+10kbC4T, 3272-26A4G, L206Wa , D1152Ha , (TG)13(T)5a CFTR-related disorders associated L206Wa , D1152Ha , (TG)13(T)5a [R117H;(T)7], (TG)12(T)5, L997F, V562I, [R668C;G576A;D443Y], [R74W;D1270N] (TG)11(T)5b , S1235Rb No clinical consequences 875+40A4G, M470V (1540A4G), I506V (1648A4G), F508C (1655T4G), 1716G4A, 2694T4G, 4002A4G, 2752-15G4C (TG)11(T)5b , S1235Rb Unproven or uncertain clinical relevance Mainly missense mutations G622D, R170H, V938G, I125T Putative splice mutations: 406-6T4C, 2752-26A4G, 3601-17T4C Only a fraction of mutations and patients have been characterized in detail and, with the exception of frequent mutations, only small numbers of patients have been available for the study of most mutations. Login to comment

[hide] Do common in silico tools predict the clinical con... Clin Genet. 2010 May;77(5):464-73. Epub 2009 Jan 6. Dorfman R, Nalpathamkalam T, Taylor C, Gonska T, Keenan K, Yuan XW, Corey M, Tsui LC, Zielenski J, Durie P
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Clin Genet. 2010 May;77(5):464-73. Epub 2009 Jan 6., [PMID:20059485]

Abstract [show]
Computational methods are used to predict the molecular consequences of amino-acid substitutions on the basis of evolutionary conservation or protein structure, but their utility in clinical diagnosis or prediction of disease outcome has not been well validated. We evaluated three popular computer programs, namely, PANTHER, SIFT and PolyPhen, by comparing the predicted clinical outcomes for a group of known CFTR missense mutations against the diagnosis of cystic fibrosis (CF) and clinical manifestations in cohorts of subjects with CF-disease and CFTR-related disorders carrying these mutations. Owing to poor specificity, none of tools reliably distinguished between individual mutations that confer CF disease from mutations found in subjects with a CFTR-related disorder or no disease. Prediction scores for CFTR mutations derived from PANTHER showed a significant overall statistical correlation with the spectrum of disease severity associated with mutations in the CFTR gene. In contrast, PolyPhen- and SIFT-derived scores only showed significant differences between CF-causing and non-CF variants. Current computational methods are not recommended for establishing or excluding a CF diagnosis, notably as a newborn screening strategy or in patients with equivocal test results.

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64 Mutations in the CFTR gene grouped by clinical category Cystic fibrosis CFTR-related disease No disease T338I D614G L320V V920L L90S M470V H199R S1251N I203M G550R P111A I148T Q1291H R560K L1388Q L183I R170H I1027T S549R D443Y P499A L1414S T908N R668C S549N A455E E1401K Q151K G27E I1234L Y563N R347P C866R S1118C P1290S R75Q A559T V520F P841R M469V E1401G P67L G85E S50Y E1409K R933G G458V G178R Y1032C R248T I980K G85V V392G L973P L137H T351S R334W I444S V938G R792G R560T R555G L1339F D1305E P574H V1240G T1053I D58G G551D L1335P I918M F994C S945L L558S F1337V R810G D1152H G1247R P574S R766M D579G W1098R H949R F200I R352Q L1077P K1351E M244K L206W M1101K D1154G L375F N1303K R1066C E528D D110Y R347H R1070Q A800G P1021S S549K A1364V V392A damaging` (is supposed to affect protein function or structure) and 'probably damaging` (high confidence of affecting protein function or structure). Login to comment

[hide] Distinct spectrum of CFTR gene mutations in congen... Hum Genet. 1997 Sep;100(3-4):365-77. Dork T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Bohm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.
Hum Genet. 1997 Sep;100(3-4):365-77., [PMID:9272157]

Abstract [show]
Congenital absence of the vas deferens (CAVD) is a frequent cause for obstructive azoospermia and accounts for 1%-2% of male infertility. A high incidence of mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene has recently been reported in males with CAVD. We have investigated a cohort of 106 German patients with congenital bilateral or unilateral absence of the vas deferens for mutations in the coding region, flanking intron regions and promotor sequences of the CFTR gene. Of the CAVD patients, 75% carried CFTR mutations or disease-associated CFTR variants, such as the "5T" allele, on both chromosomes. The distribution of mutation genotypes clearly differed from that observed in cystic fibrosis. None of the CAVD patients was homozygous for delta F508 and none was compound heterozygous for delta F508 and a nonsense or frameshift mutation. Instead, homozygosity was found for a few mild missense or splicing mutations, and the majority of CAVD mutations were missense substitutions. Twenty-one German CAVD patients were compound heterozygous for delta F508 and R117H, which was the most frequent CAVD genotype in our study group. Haplotype analysis indicated a common origin for R117H in our population, whereas another frequent CAVD mutation, viz. the "5T allele" was a recurrent mutation on different intragenic haplotypes and multiple ethnic backgrounds. We identified a total of 46 different mutations and variants, of which 15 mutations have not previously been reported. Thirteen novel missense mutations and one unique amino-acid insertion may be confined to the CAVD phenotype. A few splice or missense variants, such as F508C or 1716 G-->A, are proposed here as possible candidate CAVD mutations with an apparently reduced penetrance. Clinical examination of patients with CFTR mutations on both chromosomes revealed elevated sweat chloride concentrations and discrete symptoms of respiratory disease in a subset of patients. Thus, our collaborative study shows that CAVD without renal malformation is a primary genital form of cystic fibrosis in the vast majority of German patients and links the particular expression of clinical symptoms in CAVD with a distinct subset of CFTR mutation genotypes.

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84 Six other new missense mutations were located in the carboxyterminal transmembrane domain, particularly in the third cytoplasmic loop (R933S, V938G, L973F, D979A). Login to comment
86 The V938G substitution was identified in two unrelated patients, one homozygote with unilateral ab- 368 Table 1A Frequency distribution and haplotypes of CFTR mutations in 106 CAVD patients Mutationa Nucleotide changesb Locationc Frequencyd Haplotypee Referencef 174delA deletion of A at 174 exon 1 1 D3 This study E56K G→A at 298 exon 3 1 B3 This study D58N G→A at 304 exon 3 1 C2 This study D110H G→A at 460 exon 4 2 C2 Dean et al. (1990) R117H G→A at 482 exon 4 24 B6 Dean et al. (1990) A120T G→A at 490 exon 4 1 n.p. Chillón et al. (1994) ̃L138 insertion of CTA after 546 exon 4 1 A2 This study L206W T→G at 749 exon 6a 1 B8 Claustres et al. (1993) M265R T→G at 926 exon 6b 1 A2 Schwarz et al. (pers. comm.) R297W C→T at 1021 exon 7 1 C2 This study 1078delT deletion of T at 1078 exon 7 1 C2 Claustres et al. (1992) R334W C→T at 1132 exon 7 1 B1 Gasparini et al. (1991) R334L G→T at 1133 exon 7 1 D3 This study I336K T→A at 1139 exon 7 1 A2 Cuppens et al. (1993) R347H G→A at 1172 exon 7 3 D1 Cremonesi et al. (1992) L375F A→C at 1257 exon 8 1 B3 Jézéquel et al. (1996) ∆F508 deletion of 3 bp between 1652-1655 exon 10 57 B1 Kerem et al. (1989) G542X G→T at 1756 exon 11 2 B1 Kerem et al. (1990) R553X C→T at 1789 exon 11 1 A4 Cutting et al. (1990) L568F G→T at 1836 exon 12 1 B3 This study 2184insA insertion of A at 2184 exon 13 1 D3 Dörk et al. (1994b) 2789+5 G→A G→A at 2789+5 intron 14b 4 D3 Highsmith et al. (1997) R933S A→T at 2931 exon 15 1 n.p. Login to comment
87 This study V938G T→G at 2945 exon 15 3 D3 This study L973F T→A at 3048 and C→T at 3049 exon 16 1 D3 This study D979A A→C at 3068 exon 16 1 n.p. Login to comment
92 The homozygous case may classify V938G as the first "pure" CUAVD mutation, whereas the heterozygous CBAVD patient carries a potentially severe mutation, the new frameshift deletion 174delA, on the other chromosome. Login to comment
137 Complex alleles are indicated a One CF allele with R75X and 125G→C b One CBAVD allele with R75Q and R933S c One CBAVD allele with 5T and Q1352H d Two CF alleles with F508C and S1251N e One CF allele with 1716G→A and L619S f G576A and R668C were linked on two CBAVD and three CF alleles, whereas two additional CF alleles carried R668C together with the 3849+10kB C→T mutation (Dörk and Stuhrmann 1995) 371 Table 3 CFTR mutation genotypes in 106 males with CAVD Genotype PolyT Frequency Ethnic descent Diagnosis ∆F508/R117H 9/7 21 German, Austrian 20 CBAVD, 1 CUAVD ∆F508/5T 9/5 9 German, Austrian 8 CBAVD, 1 CUAVD ∆F508/F508C 9/7 3 German CBAVD ∆F508/R347H 9/9 2 German CBAVD ∆F508/1716 G→A 9/7 2 German CBAVD ∆F508/3272-26 A→G 9/7 2 German CBAVD ∆F508/E56K 9/7 1 German CBAVD ∆F508/M265R 9/7 1 German-Portuguese CBAVD ∆F508/R334W 9/9 1 German CBAVD ∆F508/T351S 9/9 1 German CBAVD ∆F508/L375F 9/7 1 Volga German CBAVD ∆F508/G576A & R668C 9/7 1 German CBAVD ∆F508/R933S 9/7 1 German CBAVD ∆F508/L997F 9/9 1 German CBAVD ∆F508/Y1032C 9/7 1 German CBAVD ∆F508/D1152H 9/7 1 German CBAVD ∆F508/K1351E 9/7 1 German CBAVD ∆F508/D1377H 9/7 1 Portuguese CBAVD ∆F508/L1388Q 9/7 1 German CBAVD ∆F508/unknown 9/7 4 German 3 CBAVD, 1 CUAVD 5T/5T 5/5 2 German CBAVD 5T/G542X 5/9 2 German, Turkish CBAVD 5T/D58N 5/7 1 Lebanese CBAVD 5T/̃L138 5/7 1 German-Polish CBAVD 5T/1078delT 5/7 1 German CBAVD 5T/R553X 5/7 1 German CBAVD 5T/2184insA 5/7 1 Turkish CBAVD 5T/D979A 5/7 1 Vietnamese CBAVD 5T/D1152H 5/7 1 Turkish CBAVD 5T/3659delC 5/7 1 German CBAVD 5T/S1235R 5/7 1 Greek CBAVD 5T/W1282X 5/7 1 German CBAVD 5T & Q1352H/ R297W & Q1352H 5/7 1 Vietnamese CBAVD 5T/unknown 5/7 1 German CBAVD R117H/L206W 7/9 1 German CBAVD R117H/2789+5 G→A 7/7 1 German CBAVD R117H/unknown 7/7 1 German CBAVD 2789+5 G→A/2789+5 G→A 7/7 1 Lebanese CBAVD 2789+5 G→A/L973F 7/7 1 German CBAVD V938G/V938G 7/7 1 Greek CBAVD V938G/174delA 7/7 1 German CBAVD D110H/D110H 7/7 1 Turkish CBAVD R334L/I336K 7/7 1 German CBAVD R347H/N1303K 9/9 1 German CBAVD L568F/D1152H 7/7 1 Turkish CBAVD 3272-26 A→G/V1153E 7/7 1 German CBAVD R75Q/unknown 7/7 1 German CBAVD A120T/unknown 9/7 1 German CBAVD 1716G→A/unknown 7/7 1 German CBAVD G576A & R668C/unknown 7/7 1 German CBAVD 2752-15 C→G/unknown 7/7 1 Iranian CBAVD Unknown/unknown 17 German, Turkish 7 CBAVD and 1 CUAVD without observed renal agenesis, 9 CBAVD with renal agenesis allele and the R297W mutation on a homozygous Q1352H background may then reduce CFTR function to a disease-causing level. Login to comment
145 Maldigestion 13 25 5T/D58N 184 99 55 - 14 34 5T/̃L138 177 80 53 - 15 33 5T/1078delT 187 87 56 Recurrent bronchitis 16 31 5T/G542X 181 85 79 - 17 31 5T/2184insA n.d. n.d. 60 Borderline pancreatic sufficiency 18 31 5T/D979A n.d. n.d. 55 Recurrent infections, FEVI 76% 19 29 5T/D1152H n.d. n.d. 57 - 20 32 5T/W1282X 180 76 n.d. Recurrent infections, nasal polyposis 21 37 5T/unknown 180 74 n.d. Nasal polyposis 22 28 D110H/D110H 175 80 n.d Asthma bronchiale, obstipation 23 33 R334L/I336K 170 65 n.d. Recurrent infections, nasal polyposis, maldigestion, salt depletion episodes 24 35 N1303K/R347H 167 77 93 - 25 30 V938G/174delA n.d. n.d. 42 - 26 29 V938G/V938G 197 115 n.d. Asthma bronchiale Fig.2 Spectrum of CFTR mutation genotypes in CF patients (left) and in patients with congenital absence of the vas deferens (right). Login to comment
149 As mentioned above, one further male presenting with unilateral absence of the vas deferens as the only clinical symptom was found to be homozygous for missense mutation V938G. Login to comment
175 A cluster of four novel missense substitutions, including the "ultramild" V938G mutation, target the third intracytoplasmic loop. Login to comment
196 Our analysis adds mutations D110H, 2789+5 G→A and V938G to the growing list of CFTR mutations that, in the homozygous state, can result in a restricted and primarily genital expression of disease. Login to comment

[hide] [Unilateral partial deferential agenesia and CFTR ... Gynecol Obstet Fertil. 2007 Jun;35(6):561-4. Epub 2007 May 15. Robin G, Lefebvre-Khalil V, Dumur V, Lemaitre L, Mitchell V, Rigot JM, Marcelli F
[Unilateral partial deferential agenesia and CFTR gene composite heterozygoty (deltaF508/V938G)].
Gynecol Obstet Fertil. 2007 Jun;35(6):561-4. Epub 2007 May 15., [PMID:17507277]

Abstract [show]
This is a case report of a thirty-year-old-man consulting for a primary infertility that was diagnosed four years ago. Andrologic exam was normal. Two spermograms found normal spermatic parameters. An uro-genital echography with a RMI showed that a unilateral agenesia of the left vas deferens in the pelvic portion. Then, a composite heterozygoty of the CFTR gene (DeltaF508/V938G) was found. This is the first time that the association of these two mutations has been described. This case also makes it possible to wonder about the need for realizing, or not, a systematic basis imagery (ultrasound examination in first), in the event of infertility of the couple. In this context, the discovery of an echographic anomaly made it possible to identify CFTR mutations, whose physiopathological implication in the infertility can be discussed (CFTR related disorders)...

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0 Cas clinique Ag&#e9;n&#e9;sie d&#e9;f&#e9;rentielle partielle unilat&#e9;rale et h&#e9;t&#e9;rozygotie composite du g&#e8;ne CFTR (ƊF508/V938G) Unilateral partial deferential agenesia and CFTR gene composite heterozygoty (ƊF508/V938G) G. Robina,*, V. Lef&#e8;bvre-Khalilb , V. Dumurc , L. Lema&#ee;tred , V. Mitchelle , J.-M. Rigota , F. Marcellia a Service d`andrologie, h&#f4;pital Calmette, CHRU de Lille, boulevard du Professeur-Jules-Leclercq, 59037 Lille cedex, France b Laboratoire de biologie de la reproduction, h&#f4;pital Jeanne-de-Flandre, CHRU de Lille, 1, rue Eug&#e8;ne-Avin&#e9;e, 59037 Lille cedex, France c Laboratoire de biochimie et de biologie mol&#e9;culaire, h&#f4;pital Calmette, CHRU de Lille, boulevard du Professeur-Jules-Leclercq, 59037 Lille cedex, France d Service de radiologie, h&#f4;pital Huriez, CHRU de Lille, place de Verdun, 59037 Lille cedex, France e Laboratoire de spermiologie, h&#f4;pital Calmette, CHRU de Lille, boulevard du Professeur-Jules-Leclercq, 59037 Lille cedex, France Re&#e7;u le 6 avril 2006 ; accept&#e9; le 21 d&#e9;cembre 2006 Disponible sur internet le 15 mai 2007 R&#e9;sum&#e9; Nous rapportons le cas d`un patient de 35 ans consultant pour une infertilit&#e9; primaire &#e9;voluant depuis quatre ans. Login to comment
4 Face &#e0; cette anomalie, la recherche de mutations du g&#e8;ne CFTR a mis en &#e9;vidence une h&#e9;t&#e9;rozygotie composite (ƊF508/V938G). Login to comment
11 Then, a composite heterozygoty of the CFTR gene (ƊF508/V938G) was found. Login to comment
14 In this context, the discovery of an echographic anomaly made it possible to identify CFTR mutations, whose physiopathological implication in the infertility can be discussed (CFTR related disorders)ߪ (c) 2007 Elsevier Masson SAS. Tous droits r&#e9;serv&#e9;s. Mots cl&#e9;s : Infertilit&#e9; ; Ag&#e9;n&#e9;sie d&#e9;f&#e9;rentielle ; Mutations CFTR ; Mutation V938G Keywords: Infertility; Deferential agenesia; CFTR mutations; V938G mutation http://france.elsevier.com/direct/GYOBFE/ Gyn&#e9;cologie Obst&#e9;trique & Fertilit&#e9; 35 (2007) 561-564 * Auteur correspondant. Login to comment
20 Nous tenterons &#e9;galement d`exposer quelques hypoth&#e8;ses physiopathologiques pour expliquer les cons&#e9;quences ph&#e9;notypiques de la mutation rare (V938G) diagnostiqu&#e9;e dans le cas pr&#e9;sent&#e9; ici. Login to comment
30 Devant ces anomalies, la recherche de mutations du g&#e8;ne CFTR a permis de mettre en &#e9;vidence deux mutations distinctes, faisant conclure &#e0; une h&#e9;t&#e9;rozygotie composite (ƊF508/V938G). Login to comment
66 Mutation V938G La mutation V938G du g&#e8;ne CFTR correspond &#e0; une substitution, au sein de l`exon 15, de la thymine en position 2945 par une guanine. Login to comment
68 Le premier patient, homozygote (V938G/V938G), pr&#e9;sentait une symptomatologie respiratoire &#e0; type d`asthme chronique associ&#e9; &#e0; une ag&#e9;n&#e9;sie d&#e9;f&#e9;rentielle unilat&#e9;rale. Login to comment
69 Le second, h&#e9;t&#e9;rozygote composite (V938G/ 174delA), ne pr&#e9;sentait aucune symptomatologie &#e9;vocatrice de mucoviscidose, mais une ag&#e9;n&#e9;sie d&#e9;f&#e9;rentielle bilat&#e9;rale isol&#e9;e. Compte tenu de la raret&#e9; des cas rapport&#e9;s, il est encore difficile de corr&#e9;ler g&#e9;notype et ph&#e9;notype chez les sujets porteurs de cette mutation. Login to comment
121 Cons&#e9;quences de la mutation V938G sur le fonctionnement du CFTR : hypoth&#e8;ses physiopathologiques. Login to comment

[hide] [Why and how to assess hypospermia?]. Gynecol Obstet Fertil. 2008 Oct;36(10):1035-42. doi: 10.1016/j.gyobfe.2008.04.021. Epub 2008 Sep 17. Robin G, Marcelli F, Mitchell V, Marchetti C, Lemaitre L, Dewailly D, Leroy-Billiard M, Rigot JM
[Why and how to assess hypospermia?].
Gynecol Obstet Fertil. 2008 Oct;36(10):1035-42. doi: 10.1016/j.gyobfe.2008.04.021. Epub 2008 Sep 17., [PMID:18801689]

Abstract [show]
Hypospermia is a semen volume lower than 2 mL on at least two semen analyses. The etiologies of hypospermia are many and may be divided into two pathophysiologic sub-groups: disturbances of ejaculation reflex leading to partial retrograde ejaculation and seminal glands and ducts anatomic and functional anomalies. In this last pathologic mechanism, the mutations of CFTR gene, involved in many different forms of cystic fibrosis, represent a possible cause of hypospermia. The molecular anomaly of CFTR gene's screening is very important for the potential descendents and for the patient himself. It must be considered any time clinic and/or paraclinic context is evocative.

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250 Unilateral partial deferential agenesia and CFTR gene composite heterozygoty (deltaF508/V938G). Login to comment