排序方式: 共有27条查询结果,搜索用时 31 毫秒
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Identification of 12 novel mutations in the CFTR gene 总被引:11,自引:0,他引:11
Audrezet M.P.; Mercier B.; Guillermit H.; Quere I.; Verlingue C.; Rault G.; Ferec C. 《Human molecular genetics》1993,2(1):51-54
Over 200 mutations, besides the deletion 相似文献
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Bence Gunda Manuele Mine Tibor Kovács Csilla Hornyák Dániel Bereczki György Várallyay Gábor Rudas Marie-Pierre Audrezet Elisabeth Tournier-Lasserve 《Journal of neurology》2014,261(3):500-503
Type IV collagen α1 and α2 chains form heterotrimers that constitute an essential component of basement membranes. Mutations in COL4A1, encoding the α1 chain, cause a multisystem disease with prominent cerebrovascular manifestations, including porencephaly, bleeding-prone cerebral small vessel disease, and intracranial aneurysms. Mutations in COL4A2 have only been reported in a few porencephaly families so far. Herein, we report on a young adult patient with recurrent intracerebral hemorrhage, leukoencephalopathy, intracranial aneurysms, nephropathy, and myopathy associated with a novel COL4A2 mutation. We extensively investigated a 29-year-old male patient with recurrent deep intracerebral hemorrhages causing mild motor and sensory hemisyndromes. Brain MRI showed deep intracerebral hemorrhages of different age, diffuse leukoencephalopathy, multiple cerebral microbleeds and small aneurysms of the carotid siphon bilaterally. Laboratory work-up revealed significant microscopic hematuria and elevation of creatine-kinase. Genetic testing found a de novo glycine mutation within the COL4A2 triple helical domain. The presented case completes the spectrum of cerebral and systemic manifestations of COL4A2 mutations that appears to be very similar to that in COL4A1 mutations. Therefore, we emphasize the importance of screening both COL4A1 and COL4A2 in patients showing recurrent intracerebral hemorrhage of unknown etiology, particularly if associated with leukoencephalopathy. 相似文献
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Marcorelles P Audrezet MP Le Bris MJ Laurent Y Chabaud JJ Ferec C de Braekeleer M Collet M Lagarde N 《European journal of obstetrics, gynecology, and reproductive biology》2005,118(1):21-27
OBJECTIVE: The aim of this study was to highlight the outcome of complete hydatidiform mole (CHM) coexisting with a live co-twin. METHODS: We investigated four cases of such pregnancy by ultrasound, pathological, cytogenetic, and molecular techniques. Information on clinical follow-up and outcome was also available. RESULTS: All four pregnancies were spontaneous: two ended with the delivery of a live-born baby, while the other two were terminated because of signs of serious maternal pathology or intrauterine fetal death. The criteria for carrying on with the pregnancy are reviewed. The immediate outcome depends on the maternal criteria of serious pathology and on the likelihood of intrauterine fetal death. The risk of persistent trophoblastic disease (PTD) is the same as in the case of a singleton complete mole and also seems to be correlated with the zygosity mechanism identified by molecular analysis. CONCLUSION: Hydatiform mole with a live co-twin fetus is a rare obstetric occurrence. In the case of a normal fetal karyotype, it is justifiable to await developments in the absence of maternal complications. However, treatment criteria still need improvement and diligent maternal follow-up is always warranted in the postpartum period. 相似文献
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Genotype analysis of adult cystic fibrosis patients 总被引:1,自引:0,他引:1
Ferec Claude; Verlingue Claudine; Gulllermit Herve; Quere Isabelle; Raguenes Odile; Feigelson Jean; Audrezet Marie-Plerre; Moullier Philippe; Mercier Bernard 《Human molecular genetics》1993,2(10):1557-1560
To assess the relationship between the genotype and phenotypeof adult CF patients we have selected from a group of 512 CFpatients attending centres In France, all these of greater than35 years. We have analysed the entire coding sequence of theirCFTR genes. The complete genotype was determined in 7 of the8 patients and clinical data regarding pancreatic, respiratoryand reproductive function were carefully evaluated. All thesepatients are compound heterozygote, seven carrying the 相似文献
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Andrew T Braun Philip M Farrell Claude Ferec Marie Pierre Audrezet Anita Laxova Zhanhai Li Michael R Kosorok Marjorie A Rosenberg William M Gershan 《Journal of cystic fibrosis》2006,5(1):33-41
BACKGROUND: Although there are more than 1000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, most of them are uncommon and only limited information exists regarding genotype-pulmonary phenotype relationships. METHODS: We determined and classified the CFTR mutations using denaturing high-performance liquid chromatography and developed new, quantitative methods to categorize pulmonary phenotypes. RESULTS: Two novel alleles were discovered, namely G1047R and 1525-2A-->G, which were accompanied by F508del and G551D mutations, respectively. Assessment of numerous options revealed that CF pulmonary phenotype categorization in children cannot be accomplished with clinical or pulmonary function data but is facilitated by longitudinal quantitative chest radiology. It was most useful to categorize pulmonary disease status by evaluating the typical pattern of abnormalities in patients homozygous for the F508del mutation, and then compare patients with minor mutations to this typical CF pulmonary phenotype. By this method, both patients with novel mutations have pulmonary phenotypes typical of F508del homozygotes. However, patients with class IV mutations (e.g., R347P) or with pancreatic sufficiency showed serial chest radiographs that were atypically mild. CONCLUSIONS: Longitudinal quantitative chest radiography provides a new strategy for CF pulmonary phenotype categorization that should be useful for genotype-phenotype delineation in individual patients and in both epidemiologic studies and clinical trials involving groups of children with CF. 相似文献
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Heiko Witt Niels Teich Volker Keim Hans‐Ulrich Schulz Roland Pfützer Matthias Löhr Thomas M. Gress Renate Nickel Olfert Landt Monika Koudova Milan Macek Jr Antoni Farre Teresa Casals Marie‐Claire Desax Sabina Gallati Macarena Gomez‐Lira Marie Pierre Audrezet Claude Férec Marie des Georges Mireille Claustres Kaspar Truninger 《Human mutation》2012,33(2):456-456
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