Gaetan Lesca

Summary

Affiliation: Hospices Civils de Lyon
Country: France

Publications

  1. pmc Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
    Mathieu Milh
    INSERM, UMR_S 910 Faculté de médecine, Marseille, France
    Orphanet J Rare Dis 8:80. 2013
  2. doi [Family impact of FXTAS diagnosis: genetic counseling for at-risk relatives]
    G Lesca
    Service de Genetique, GH Est, Hospices Civils de Lyon, 3, Quai des Celestins, 69002 Lyon, France
    Rev Neurol (Paris) 169:515-8. 2013
  3. doi Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients
    Gaetan Lesca
    Service de Génétique Moléculaire et Clinique, Hopital Edouard Herriot, Universite de Lyon, Universite Lyon 1, 5 Place d Arsonval, Lyon, France
    Eur J Hum Genet 16:742-9. 2008
  4. doi Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease
    Gaetan Lesca
    Service de Genetique, hospices civils de Lyon et université Claude Bernard Lyon I, Lyon, France
    Epilepsia 51:1691-8. 2010
  5. ncbi Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation
    Gaetan Lesca
    Laboratoire de Genetique, Service de Génétique Moléculaire et Clinique, Bâtiment 7, Hopital Edouard Herriot, Lyon, France
    Eur J Med Genet 50:200-8. 2007
  6. doi De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features
    Gaetan Lesca
    Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Groupement Hospitalier Est, Lyon, France
    Am J Med Genet A 155:1706-11. 2011
  7. ncbi [Family study allows more optimistic prognosis and genetic counselling in a child with a deletion of exons 50-51 of the dystrophin gene]
    G Lesca
    Service de Génétique Moléculaire et Clinique, Hopital Edouard Herriot, Lyon, France
    Arch Pediatr 14:262-5. 2007
  8. ncbi Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network
    Gaetan Lesca
    Service de Génétique Moléculaire et Médicale, Hopital Edouard Herriot, Lyon, France, and Genetica Medica, Università di Pavia and IRCCS S Matteo, Pavia, Italy
    Genet Med 9:14-22. 2007
  9. ncbi [Problems posed by genetic diseases, concerning DNA instability disorders: fragile X syndrome]
    Gaetan Lesca
    Laboratoire de Genetique, hôpital Edouard Herriot et Unité fonctionnelle de génétique clinique, Hopital Debrousse, 69322 Lyon
    Rev Prat 56:1705-10. 2006
  10. ncbi Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients
    Gaetan Lesca
    Service de Génétique Moléculaire et Médicale, Hopital Edouard Herriot, Lyon, France
    Hum Mutat 27:598. 2006

Collaborators

Detail Information

Publications28

  1. pmc Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
    Mathieu Milh
    INSERM, UMR_S 910 Faculté de médecine, Marseille, France
    Orphanet J Rare Dis 8:80. 2013
    ..Our objective was to confirm that KCNQ2 was an important gene to include in the diagnosis workup of EOEEs and to fully describe the clinical and EEG features of mutated patients...
  2. doi [Family impact of FXTAS diagnosis: genetic counseling for at-risk relatives]
    G Lesca
    Service de Genetique, GH Est, Hospices Civils de Lyon, 3, Quai des Celestins, 69002 Lyon, France
    Rev Neurol (Paris) 169:515-8. 2013
    ..Brain magnetic resonance imaging (MRI) often shows symmetric increases in T2-weighted signal intensity in the middle cerebellar peduncles. The diagnosis of FXTAS in a patient raises important family issues...
  3. doi Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients
    Gaetan Lesca
    Service de Génétique Moléculaire et Clinique, Hopital Edouard Herriot, Universite de Lyon, Universite Lyon 1, 5 Place d Arsonval, Lyon, France
    Eur J Hum Genet 16:742-9. 2008
    ..Partially shared haplotypes between French and Italian patients were found for three mutations. This suggests a common origin and a possible diffusion of these mutations from Italy to France...
  4. doi Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease
    Gaetan Lesca
    Service de Genetique, hospices civils de Lyon et université Claude Bernard Lyon I, Lyon, France
    Epilepsia 51:1691-8. 2010
    ..The aim of this study was to characterize the mutation spectrum in a cohort of unrelated patients with presumed LD...
  5. ncbi Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation
    Gaetan Lesca
    Laboratoire de Genetique, Service de Génétique Moléculaire et Clinique, Bâtiment 7, Hopital Edouard Herriot, Lyon, France
    Eur J Med Genet 50:200-8. 2007
    ..Screening may be improved by a pre-selection based on clinical features that remain to be established...
  6. doi De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features
    Gaetan Lesca
    Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Groupement Hospitalier Est, Lyon, France
    Am J Med Genet A 155:1706-11. 2011
    ..Additional case reports with identical or overlapping deletions would help in defining the phenotype associated with ARHGEF9 haploinsufficiency...
  7. ncbi [Family study allows more optimistic prognosis and genetic counselling in a child with a deletion of exons 50-51 of the dystrophin gene]
    G Lesca
    Service de Génétique Moléculaire et Clinique, Hopital Edouard Herriot, Lyon, France
    Arch Pediatr 14:262-5. 2007
    ..In frame deletions of exons encoding the central rod domain of dystrophin have been associated with a highly variable phenotype, including asymptomatic individuals. The lack of family history impairs accurate genetic counselling...
  8. ncbi Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network
    Gaetan Lesca
    Service de Génétique Moléculaire et Médicale, Hopital Edouard Herriot, Lyon, France, and Genetica Medica, Università di Pavia and IRCCS S Matteo, Pavia, Italy
    Genet Med 9:14-22. 2007
    ..We studied the relationship between the phenotype and genotype in patients with a proven mutation in either ENG (HHT1) or ACVRL1 (HHT2)...
  9. ncbi [Problems posed by genetic diseases, concerning DNA instability disorders: fragile X syndrome]
    Gaetan Lesca
    Laboratoire de Genetique, hôpital Edouard Herriot et Unité fonctionnelle de génétique clinique, Hopital Debrousse, 69322 Lyon
    Rev Prat 56:1705-10. 2006
  10. ncbi Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients
    Gaetan Lesca
    Service de Génétique Moléculaire et Médicale, Hopital Edouard Herriot, Lyon, France
    Hum Mutat 27:598. 2006
    ..Our results also emphasize the higher prevalence of large insertions/deletions in ENG and the predominance of ACVRL1 over ENG mutations...
  11. ncbi [X-linked adrenoleukodystrophy in a female proband: clinical presentation, biological diagnosis and family consequences]
    G Lesca
    Laboratoire de Genetique, Pavillon E, Hopital Edouard Herriot, 5, Place d Arsonval, 69437 Lyon Cedex 03, France
    Arch Pediatr 12:1237-40. 2005
    ..More than a half of the carrier females display clinical symptoms over the age of 40 years...
  12. ncbi Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France
    Gaetan Lesca
    Laboratoire de Genetique, Hopital Edouard Herriot, Lyon, France
    Hum Mutat 23:289-99. 2004
    ..1231C>T (p.Arg411Trp), c.1232G>C (p.Arg411Pro), and c.1232G>A (p.Arg411Gln) were found in seven, two, and one patients, respectively. Haplotype analysis was in favor of both a founder effect and a mutation hot-spot...
  13. ncbi [Symptomatic carriers of dystrophinopathy with chromosome X inactivation bias]
    G Lesca
    Unité de Neurogénétique, Hopital de la Croix Rousse, Lyon
    Rev Neurol (Paris) 159:775-80. 2003
    ....
  14. doi A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2
    Sarra Dimassi
    Department of Genetics, Lyon University Hospital, Lyon, France Claude Bernard Lyon I University, Lyon, France CRNL, CNRS UMR 5292, INSERM U1028, Lyon, France
    Epilepsia 55:370-8. 2014
    ..However, no systematic search for microdeletions or microduplications has been reported in RE so far...
  15. doi Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences
    Rodica Gincul
    Hospices Civils de Lyon, Hepatogastroenterology Department, Centre Hospitalier Lyon Sud, Pierre Benite, France
    Hepatology 48:1570-6. 2008
    ..The diameter of the main hepatic artery and the presence of focal nodular hyperplasia (FNH) were predictive of a higher cardiac index...
  16. ncbi Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability
    Sarra Dimassi
    Service de Genetique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Lyon, France
    Am J Med Genet A 161:2564-9. 2013
    ..We report here on the first cases of GRIN2B deletion, enlarging the spectrum of GRIN2B abnormalities. Our findings confirm the involvement of this gene in neurodevelopmental disorders. © 2013 Wiley Periodicals, Inc. ..
  17. doi GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction
    Gaetan Lesca
    Department of Genetics, University Hospitals of Lyon, Lyon, France
    Nat Genet 45:1061-6. 2013
    ..The identification of GRIN2A as a major gene for these epileptic encephalopathies provides crucial insights into the underlying pathophysiology. ..
  18. ncbi The psychological impact of cryptic chromosomal abnormalities diagnosis announcement
    Françoise Houdayer
    Centre de référence des anomalies du développement, Service de Genetique, Hospices Civils de Lyon, Bron, France
    Eur J Med Genet 56:585-90. 2013
    ..In conclusion, our study shows that the disclosure of pCNVs has a significant psychological impact: a multidisciplinary approach to the diagnosis announcement, including a psychological support, should be systematically warranted. ..
  19. ncbi Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia
    Carla Olivieri
    Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italy
    Genet Med 8:183-90. 2006
    ..In some families in whom a form of idiopathic pulmonary arterial hypertension cosegregated with HHT, mutations in the ACVRL1 gene were present...
  20. ncbi Hemorrhagic hereditary telangiectasia (Rendu-Osler disease) and infectious diseases: an underestimated association
    Sophie Dupuis-Girod
    Service de Génétique et Centre de Référence sur la Maladie de Rendu Osler, hôpital de l Hôtel dieu, Lyon, France
    Clin Infect Dis 44:841-5. 2007
    ..Cerebral infections accounted for 33% of all infections, were mainly due to multiple and anaerobic bacteria, and were associated with the presence of pulmonary arteriovenous malformations and a short duration of epistaxis...
  21. ncbi Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation
    Gaetan Lesca
    Service de Génétique and Centre de Référence des Anomalies du Développement, Hopital Femme Mere Enfant, Hospices Civils de Lyon, Lyon, France INSERM U1028, CNRS, UMR5292, Lyon Neuroscience Research Center, TIGER Team, University Claude Bernard Lyon 1, Universite de Lyon, Lyon, France
    Am J Med Genet A 161:3063-71. 2013
    ..In a cognitively impaired male from this family, who also presented with tall stature and dysmorphism and did not have the MED12 mutation, a 600-kb duplication at 17p13.3 including the YWHAE gene, was found in a mosaic state...
  22. ncbi Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease)
    Vincent Cottin
    Reference Center for Orphan Lung Disorders, Louis Pradel Hospital, Hospices Civils de Lyon, University Lyon I, Research Network on Rendu Osler Disease, Lyon, France
    Respiration 74:361-78. 2007
    ..Pulmonary hypertension is detected by systematic examination of right cardiac cavities and tricuspid regurgitation flow at echocardiography, and the diagnosis is established by right heart catheterization...
  23. doi Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations
    Caroline Schluth-Bolard
    Laboratoire de Cytogénétique Constitutionnelle, Service de Genetique, Centre de Biologie et de Pathologie Est, 59, boulevard Pinel, Bron 69677 Cedex, France
    J Med Genet 50:144-50. 2013
    ....
  24. ncbi Clinical, cytogenetic, and molecular description of a FRAXE French family
    Gaetan Lesca
    Laboratoire de Genetique, Hopital E Herriot, Lyon, France
    Psychiatr Genet 13:43-6. 2003
    ..The phenotype associated with FRAXE is usually considered as mild or moderate mental retardation, with incomplete penetrance. However, phenotype/genotype relations have been less characterized...
  25. ncbi Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism
    Gaetan Lesca
    Department of Constitutional Cytogenetics, Lyon Hospices Civils, Lyon, France
    Epilepsia 53:1526-38. 2012
    ..A role for autoimmunity has been proposed but the pathophysiology of CSWSS and of LKS remains uncharacterized...
  26. doi Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome
    Stéphanie Marignier
    Hospices Civils de Lyon, HFME, Centre de référence, Déficiences Intellectuelles de causes rares, 59 Boulevard Pinel, Bron, France
    Eur J Med Genet 55:433-6. 2012
    ..In conclusion, fine cognitive assessment may be worthwhile for patients with CdCS since good intellectual functioning may be masked by severe speech and gestural dyspraxia, thus requiring specific teaching and rehabilitation strategies...
  27. ncbi Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester
    Laurence Michel-Calemard
    Laboratoire de Biochimie, Hopital Debrousse, Lyon, France
    Prenat Diagn 24:519-23. 2004
    ....
  28. doi A novel three base-pair LGI1 deletion leading to loss of function in a family with autosomal dominant lateral temporal epilepsy and migraine-like episodes
    Julitta de Bellescize
    Service Epilepsie, sommeil, Explorations Fonctionnelles Neurolopédiatriques et CTRS IDEE, Hopital Femme Mere Enfant, Hospices Civils de Lyon, Lyon, France
    Epilepsy Res 85:118-22. 2009
    ..Functional studies showed that the mutated protein was not secreted when transfected in COS cells, consistent with a causative role in the disease...