Genomes and Genes
Affiliation: Hospices Civils de Lyon
- Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2Mathieu 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...
- [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...
- Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora diseaseGaetan 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...
- De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic featuresGaetan 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...
- Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patientsGaetan 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...
- Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardationGaetan 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...
- [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...
- Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT networkGaetan 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)...
- [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
- Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patientsGaetan 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...
- [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...
- Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in FranceGaetan 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...
- [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....
- A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2Sarra 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...
- Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequencesRodica 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...
- Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disabilitySarra 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. ..
- GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunctionGaetan 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. ..
- Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girlNadia Boutry-Kryza
Department of Molecular Genetics, Lyon University Hospital, Lyon, France Claude Bernard Lyon I University, Lyon, France CRNL, CNRS UMR 5292, INSERM U1028, Lyon, France
Am J Med Genet A 164:2025-8. 2014..This patient highlights the difficulties involved in the detection of such abnormalities, particularly when they occur in a mosaic state and involve two distinct mutational events in a single gene. © 2014 Wiley Periodicals, Inc. ..
- The psychological impact of cryptic chromosomal abnormalities diagnosis announcementFrançoise 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. ..
- Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasiaCarla 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...
- Hemorrhagic hereditary telangiectasia (Rendu-Osler disease) and infectious diseases: an underestimated associationSophie 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...
- Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutationGaetan 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...
- 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...
- Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformationsCaroline 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....
- Clinical, cytogenetic, and molecular description of a FRAXE French familyGaetan 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...
- Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autismGaetan 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...
- Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndromeStéphanie 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...
- Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimesterLaurence Michel-Calemard
Laboratoire de Biochimie, Hopital Debrousse, Lyon, France
Prenat Diagn 24:519-23. 2004....
- A novel three base-pair LGI1 deletion leading to loss of function in a family with autosomal dominant lateral temporal epilepsy and migraine-like episodesJulitta 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...