19 results on '"Nourisson, Elsa"'
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2. Dépistage génétique néonatal : à propos du programme pilote sur l’amyotrophie spinale (DEPISMA)
- Author
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Lacombe, Didier, Calmels, Nadège, Andre, Carole, Reboul, Marie-Pierre, Biancalana, Valérie, Bitoun, Anaïs, Cottet, Christian, de Castelmur, Marie, Haushalter, Virginie, Helot, Isabelle, Nourisson, Elsa, Philippe, Elodie, Pommier, Valentine, Arveiler, Benoit, Nabarette, Hervé, de Feraudy, Yvan, Raclet, Virginie, Ramousset, Carole, Reneaud, Hélène, Richard, Hugo, Romain, Sarah, Bouffard-Dubeau, Catherine, Pomies, Christine, Attarian, Shahram, Stalens, Caroline, Vaidie, Amandine, Espil-Taris, Caroline, and Laugel, Vincent
- Published
- 2024
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3. Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy
- Author
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Gouronc, Aurélie, primary, Javey, Elodie, additional, Leuvrey, Anne-Sophie, additional, Nourisson, Elsa, additional, Friedmann, Sylvie, additional, Reichert, Valérie, additional, Derive, Nicolas, additional, Francannet, Christine, additional, Keren, Boris, additional, Lévy, Jonathan, additional, Planes, Marc, additional, Ruaud, Lyse, additional, Amiel, Jeanne, additional, Dollfus, Hélène, additional, Scheidecker, Sophie, additional, and Muller, Jean, additional
- Published
- 2023
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4. WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects
- Author
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Karam, Adella, primary, Delvallée, Clarisse, additional, Estrada-Cuzcano, Alejandro, additional, Geoffroy, Véronique, additional, Lamouche, Jean-Baptiste, additional, Leuvrey, Anne-Sophie, additional, Nourisson, Elsa, additional, Tarabeux, Julien, additional, Stoetzel, Corinne, additional, Scheidecker, Sophie, additional, Porter, Louise Frances, additional, Génin, Emmanuelle, additional, Redon, Richard, additional, Sandron, Florian, additional, Boland, Anne, additional, Deleuze, Jean-François, additional, Le May, Nicolas, additional, Dollfus, Hélène, additional, and Muller, Jean, additional
- Published
- 2023
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5. Complex Allele with Additive Gain-of-Function STING1 Variants in a Patient with Cavitating Lung Lesions and Aspergillosis.
- Author
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Guffroy, Aurélien, Dieudonné, Yannick, Gies, Vincent, Danion, François, and Study group, Korganow, Anne-Sophie, Tarabeux, Julien, Ruch, Yvon, Soulas-Sprauel, Pauline, Giorgiutti, Stéphane, Wadier, Nadège, Gérard, Bénédicte, Nourisson, Elsa, Nathan, Nadia, Legendre, Marie, Frémond, Marie-Louise, Letscher-Bru, Valérie, Kessler, Romain, and Hansmann, Yves
- Subjects
PULMONARY aspergillosis ,LUNG diseases ,ALLELES ,TYPE I interferons ,MEDICAL societies ,MULTIPLE organ failure - Abstract
STING GOF, interferon, aspergillosis, interstitial lung disease, primary immunodeficiency, SAVI Keywords: STING GOF; interferon; aspergillosis; SAVI; interstitial lung disease; primary immunodeficiency EN STING GOF interferon aspergillosis SAVI interstitial lung disease primary immunodeficiency 1156 1159 4 10/10/22 20220801 NES 220801 Aurélien Guffroy and Yannick Dieudonné contributed equally to this work. Segregation analysis by Sanger sequencing, in the patient and her father (patient II.4; from a tissue conserved in the pathology department), confirmed the presence of these two mutations in both patients (Fig. [Extracted from the article]
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- 2022
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6. A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome
- Author
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Delvallée, Clarisse, Nicaise, Samuel, Antin, Manuela, Leuvrey, Anne-Sophie, Nourisson, Elsa, Leitch, Carmen C, Kellaris, Georgios, Stoetzel, Corinne, Geoffroy, Véronique, Scheidecker, Sophie, Keren, Boris, Depienne, Christel, Klar, Joakim, Dahl, Niklas, Deleuze, Jean-François, Génin, Emmanuelle, Redon, Richard, Demurger, Florence, Devriendt, Koenraad, Mathieu-Dramard, Michèle, Poitou-Bernert, Christine, Odent, Sylvie, Katsanis, Nicholas, Mandel, Jean-Louis, Davis, Erica E, Dollfus, Hélène, Muller, Jean, Delvallée, Clarisse, Nicaise, Samuel, Antin, Manuela, Leuvrey, Anne-Sophie, Nourisson, Elsa, Leitch, Carmen C, Kellaris, Georgios, Stoetzel, Corinne, Geoffroy, Véronique, Scheidecker, Sophie, Keren, Boris, Depienne, Christel, Klar, Joakim, Dahl, Niklas, Deleuze, Jean-François, Génin, Emmanuelle, Redon, Richard, Demurger, Florence, Devriendt, Koenraad, Mathieu-Dramard, Michèle, Poitou-Bernert, Christine, Odent, Sylvie, Katsanis, Nicholas, Mandel, Jean-Louis, Davis, Erica E, Dollfus, Hélène, and Muller, Jean
- Abstract
Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinitis pigmentosa, obesity, polydactyly, cognitive impairment and renal failure. Pathogenic variants in 24 genes account for the molecular basis of >80% of cases. Toward saturated discovery of the mutational basis of the disorder, we carefully explored our cohorts and identified a hominid-specific SINE-R/VNTR/Alu type F (SVA-F) insertion in exon 13 of BBS1 in eight families. In six families, the repeat insertion was found in trans with c.1169 T > G, p.Met390Arg and in two families the insertion was found in addition to other recessive BBS loci. Whole genome sequencing, de novo assembly and SNP array analysis were performed to characterize the genomic event. This insertion is extremely rare in the general population (found in 8 alleles of 8 BBS cases but not in >10 800 control individuals from gnomAD-SV) and due to a founder effect. Its 2435 bp sequence contains hallmarks of LINE1 mediated retrotransposition. Functional studies with patient-derived cell lines confirmed that the BBS1 SVA-F is deleterious as evidenced by a significant depletion of both mRNA and protein levels. Such findings highlight the importance of dedicated bioinformatics pipelines to identify all types of variation.
- Published
- 2021
- Full Text
- View/download PDF
7. Pathogenic variants inKCNQ2cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy
- Author
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Mary, Laura, primary, Nourisson, Elsa, additional, Feger, Claire, additional, Laugel, Vincent, additional, Chaigne, Denys, additional, Keren, Boris, additional, Afenjar, Alexandra, additional, Billette, Thierry, additional, Trost, Detlef, additional, Cieuta‐Walti, Cécile, additional, Gerard, Bénédicte, additional, Piton, Amélie, additional, and Schaefer, Elise, additional
- Published
- 2021
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8. A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome
- Author
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Delvallée, Clarisse, primary, Nicaise, Samuel, additional, Antin, Manuela, additional, Leuvrey, Anne‐Sophie, additional, Nourisson, Elsa, additional, Leitch, Carmen C., additional, Kellaris, Georgios, additional, Stoetzel, Corinne, additional, Geoffroy, Véronique, additional, Scheidecker, Sophie, additional, Keren, Boris, additional, Depienne, Christel, additional, Klar, Joakim, additional, Dahl, Niklas, additional, Deleuze, Jean‐François, additional, Génin, Emmanuelle, additional, Redon, Richard, additional, Demurger, Florence, additional, Devriendt, Koenraad, additional, Mathieu‐Dramard, Michèle, additional, Poitou‐Bernert, Christine, additional, Odent, Sylvie, additional, Katsanis, Nicholas, additional, Mandel, Jean‐Louis, additional, Davis, Erica E., additional, Dollfus, Hélène, additional, and Muller, Jean, additional
- Published
- 2020
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- View/download PDF
9. High prevalence of Bardet‐Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3
- Author
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Gouronc, Aurélie, primary, Zilliox, Vincent, additional, Jacquemont, Marie‐Line, additional, Darcel, Françoise, additional, Leuvrey, Anne‐Sophie, additional, Nourisson, Elsa, additional, Antin, Manuela, additional, Alessandri, Jean‐Luc, additional, Doray, Bérénice, additional, Gueguen, Paul, additional, Payet, Frédérique, additional, Randrianaivo, Hanitra, additional, Stoetzel, Corinne, additional, Scheidecker, Sophie, additional, Flodrops, Hugues, additional, Dollfus, Hélène, additional, and Muller, Jean, additional
- Published
- 2020
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- View/download PDF
10. Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.
- Author
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Mary, Laura, Nourisson, Elsa, Feger, Claire, Laugel, Vincent, Chaigne, Denys, Keren, Boris, Afenjar, Alexandra, Billette, Thierry, Trost, Detlef, Cieuta‐Walti, Cécile, Gerard, Bénédicte, Piton, Amélie, and Schaefer, Elise
- Abstract
High‐throughput sequencing (HTS) improved the molecular diagnosis in individuals with intellectual deficiency (ID) and helped to broaden the phenotype of previously known disease‐causing genes. We report herein four unrelated patients with isolated ID, carriers of a likely pathogenic variant in KCNQ2, a gene usually implicated in benign familial neonatal seizures (BFNS) or early onset epileptic encephalopathy (EOEE). Patients were diagnosed by targeted HTS or exome sequencing. Pathogenicity of the variants was assessed by multiple in silico tools. Patients' ID ranged from mild to severe with predominance of speech disturbance and autistic features. Three of the four variants disrupted the same amino acid. Compiling all the pathogenic variants previously reported, we observed a strong overlap between variants causing EOEE, isolated ID, and BFNS and an important intra‐familial phenotypic variability, although missense variants in the voltage‐sensing domain and the pore are significantly associated to EOEE (p < 0.01, Fisher test). Thus, pathogenic variants in KCNQ2 can be associated with isolated ID. We did not highlight strong related genotype–phenotype correlations in KCNQ2‐related disorders. A second genetic hit, a burden of rare variants, or other extrinsic factors may explain such a phenotypic variability. However, it is of interest to study encephalopathy genes in non‐epileptic ID patients. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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11. Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes
- Author
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Mary, Laura, primary, Chennen, Kirsley, additional, Stoetzel, Corinne, additional, Antin, Manuela, additional, Leuvrey, Anne, additional, Nourisson, Elsa, additional, Alanio‐Detton, Elisabeth, additional, Antal, Maria C., additional, Attié‐Bitach, Tania, additional, Bouvagnet, Patrice, additional, Bouvier, Raymonde, additional, Buenerd, Annie, additional, Clémenson, Alix, additional, Devisme, Louise, additional, Gasser, Bernard, additional, Gilbert‐Dussardier, Brigitte, additional, Guimiot, Fabien, additional, Khau Van Kien, Philippe, additional, Leroy, Brigitte, additional, Loget, Philippe, additional, Martinovic, Jelena, additional, Pelluard, Fanny, additional, Perez, Marie‐Josée, additional, Petit, Florence, additional, Pinson, Lucile, additional, Rooryck‐Thambo, Caroline, additional, Poch, Olivier, additional, Dollfus, Hélène, additional, Schaefer, Elise, additional, and Muller, Jean, additional
- Published
- 2019
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12. High prevalence of Bardet‐Biedl syndrome in La RéunionIsland is due to a founder variant in ARL6/BBS3.
- Author
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Gouronc, Aurélie, Zilliox, Vincent, Jacquemont, Marie‐Line, Darcel, Françoise, Leuvrey, Anne‐Sophie, Nourisson, Elsa, Antin, Manuela, Alessandri, Jean‐Luc, Doray, Bérénice, Gueguen, Paul, Payet, Frédérique, Randrianaivo, Hanitra, Stoetzel, Corinne, Scheidecker, Sophie, Flodrops, Hugues, Dollfus, Hélène, and Muller, Jean
- Subjects
LAURENCE-Moon-Biedl syndrome ,COGNITION disorders ,GENETIC counseling ,RECESSIVE genes ,RETINAL degeneration ,FUNCTIONAL analysis - Abstract
Bardet‐Biedl syndrome (BBS) is a rare ciliopathy with variable retinal dystrophy, polydactyly, renal abnormalities, obesity, cognitive impairment, and hypogonadism. Biallelic pathogenic variants have been identified in 24 genes, leading to BBS in an autosomal recessive inheritance pattern. In this study, we investigated a cohort of 16 families (20 individuals) presenting with typical BBS originating from La Réunion Island using sequencing (Sanger and high‐throughput methods) and SNP array. In eight families (12 individuals) we identified the same ARL6/BBS3 variation [c.535G > A, p.(Asp179Asn)]. Bioinformatics and functional analyses revealed an effect of this variant on the splicing of ARL6/BBS3. Owing to the relatively high frequency of this variant, a possible founder effect was suspected. Genotyping of six individuals revealed a common 3.8‐Mb haplotype and estimated the most recent common ancestor to about eight generations confirmed by the known genealogy. Knowledge of this founder effect modifies our diagnostic strategy and enables a personalized genetic counseling for patients from La Réunion Island. Being the first description of BBS patients from La Réunion Island, we could estimate its prevalence between ~1/45000 and ~ 1/66000 individuals. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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13. Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis
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Mary, Laura, primary, Piton, Amélie, additional, Schaefer, Elise, additional, Mattioli, Francesca, additional, Nourisson, Elsa, additional, Feger, Claire, additional, Redin, Claire, additional, Barth, Magali, additional, El Chehadeh, Salima, additional, Colin, Estelle, additional, Coubes, Christine, additional, Faivre, Laurence, additional, Flori, Elisabeth, additional, Geneviève, David, additional, Capri, Yline, additional, Perrin, Laurence, additional, Fabre-Teste, Jennifer, additional, Timbolschi, Dana, additional, Verloes, Alain, additional, Olaso, Robert, additional, Boland, Anne, additional, Deleuze, Jean-François, additional, Mandel, Jean-Louis, additional, Gerard, Bénédicte, additional, and Giurgea, Irina, additional
- Published
- 2018
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14. Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
- Author
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Quartier, Angélique, primary, Poquet, Hélène, additional, Gilbert-Dussardier, Brigitte, additional, Rossi, Massimiliano, additional, Casteleyn, Anne-Sophie, additional, Portes, Vincent des, additional, Feger, Claire, additional, Nourisson, Elsa, additional, Kuentz, Paul, additional, Redin, Claire, additional, Thevenon, Julien, additional, Mosca-Boidron, Anne-Laure, additional, Callier, Patrick, additional, Muller, Jean, additional, Lesca, Gaetan, additional, Huet, Frédéric, additional, Geoffroy, Véronique, additional, El Chehadeh, Salima, additional, Jung, Matthieu, additional, Trojak, Benoit, additional, Le Gras, Stéphanie, additional, Lehalle, Daphné, additional, Jost, Bernard, additional, Maury, Stéphanie, additional, Masurel, Alice, additional, Edery, Patrick, additional, Thauvin-Robinet, Christel, additional, Gérard, Bénédicte, additional, Mandel, Jean-Louis, additional, Faivre, Laurence, additional, and Piton, Amélie, additional
- Published
- 2017
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15. Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes.
- Author
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Antin, Manuela, Leuvrey, Anne, Nourisson, Elsa, Mary, Laura, Muller, Jean, Bouvier, Raymonde, Buenerd, Annie, Clémenson, Alix, Devisme, Louise, Gasser, Bernard, Gilbert‐Dussardier, Brigitte, Guimiot, Fabien, Khau Van Kien, Philippe, Leroy, Brigitte, Loget, Philippe, Stoetzel, Corinne, Schaefer, Elise, Dollfus, Hélène, Chennen, Kirsley, and Martinovic, Jelena
- Subjects
LAURENCE-Moon-Biedl syndrome ,PRENATAL diagnosis ,FETAL abnormalities ,ULTRASONIC imaging ,ALLELES ,CILIOPATHY ,POLYDACTYLY - Abstract
Bardet‐Biedl syndrome (BBS) is an emblematic ciliopathy associated with retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, hypogonadism and renal dysfunction. Before birth, enlarged/cystic kidneys as well as polydactyly are the hallmark signs of BBS to consider in absence of familial history. However, these findings are not specific to BBS, raising the problem of differential diagnoses and prognosis. Molecular diagnosis during pregnancies remains a timely challenge for this heterogeneous disease (22 known genes). We report here the largest cohort of BBS fetuses to better characterize the antenatal presentation. Prenatal ultrasound (US) and/or autopsy data from 74 fetuses with putative BBS diagnosis were collected out of which molecular diagnosis was established in 51 cases, mainly in BBS genes (45 cases) following the classical gene distribution, but also in other ciliopathy genes (6 cases). Based on this, an updated diagnostic decision tree is proposed. No genotype/phenotype correlation could be established but postaxial polydactyly (82%) and renal cysts (78%) were the most prevalent symptoms. However, autopsy revealed polydactyly that was missed by prenatal US in 55% of the cases. Polydactyly must be carefully looked for in pregnancies with apparently isolated renal anomalies in fetuses. A, Fraction of BBS genes involved in our cohort of 45 fetuses with a Bardet‐Biedl syndrome. B, BBS decision tree for the identification of disease‐causing variations in BBS patients. [ABSTRACT FROM AUTHOR]
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- 2019
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16. Disease-causing variants in TCF4are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis
- Author
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Mary, Laura, Piton, Amélie, Schaefer, Elise, Mattioli, Francesca, Nourisson, Elsa, Feger, Claire, Redin, Claire, Barth, Magali, El Chehadeh, Salima, Colin, Estelle, Coubes, Christine, Faivre, Laurence, Flori, Elisabeth, Geneviève, David, Capri, Yline, Perrin, Laurence, Fabre-Teste, Jennifer, Timbolschi, Dana, Verloes, Alain, Olaso, Robert, Boland, Anne, Deleuze, Jean-François, Mandel, Jean-Louis, Gerard, Bénédicte, and Giurgea, Irina
- Abstract
High-throughput sequencing (HTS) of human genome coding regions allows the simultaneous screen of a large number of genes, significantly improving the diagnosis of non-syndromic intellectual disabilities (ID). HTS studies permit the redefinition of the phenotypical spectrum of known disease-causing genes, escaping the clinical inclusion bias of gene-by-gene Sanger sequencing. We studied a cohort of 903 patients with ID not reminiscent of a well-known syndrome, using an ID-targeted HTS of several hundred genes and found de novo heterozygous variants in TCF4(transcription factor 4) in eight novel patients. Piecing together the patients from this study and those from previous large-scale unbiased HTS studies, we estimated the rate of individuals with ID carrying a disease-causing TCF4mutation to 0.7%. So far, TCF4molecular abnormalities were known to cause a syndromic form of ID, Pitt–Hopkins syndrome (PTHS), which combines severe ID, developmental delay, absence of speech, behavioral and ventilation disorders, and a distinctive facial gestalt. Therefore, we reevaluated ten patients carrying a pathogenic or likely pathogenic variant in TCF4(eight patients included in this study and two from our previous ID-HTS study) for PTHS criteria defined by Whalen and Marangi. A posteriori, five patients had a score highly evocative of PTHS, three were possibly consistent with this diagnosis, and two had a score below the defined PTHS threshold. In conclusion, these results highlight TCF4as a frequent cause of moderate to profound ID and broaden the clinical spectrum associated to TCF4mutations to nonspecific ID.
- Published
- 2018
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17. Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression
- Author
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Mignot, Cyril, primary, Apartis, Emmanuelle, additional, Durr, Alexandra, additional, Marques Lourenço, Charles, additional, Charles, Perrine, additional, Devos, David, additional, Moreau, Caroline, additional, de Lonlay, Pascale, additional, Drouot, Nathalie, additional, Burglen, Lydie, additional, Kempf, Nadine, additional, Nourisson, Elsa, additional, Chantot-Bastaraud, Sandra, additional, Lebre, Anne-Sophie, additional, Rio, Marlène, additional, Chaix, Yves, additional, Bieth, Eric, additional, Roze, Emmanuel, additional, Bonnet, Isabelle, additional, Canaple, Sandrine, additional, Rastel, Coralie, additional, Brice, Alexis, additional, Rötig, Agnès, additional, Desguerre, Isabelle, additional, Tranchant, Christine, additional, Koenig, Michel, additional, and Anheim, Mathieu, additional
- Published
- 2013
- Full Text
- View/download PDF
18. Dépistage génétique néonatal : à propos du programme pilote sur l’amyotrophie spinale (DEPISMA)
- Author
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Lacombe, Didier, Calmels, Nadège, Andre, Carole, Reboul, Marie-Pierre, Biancalana, Valérie, Bitoun, Anaïs, Cottet, Christian, de Castelmur, Marie, Haushalter, Virginie, Helot, Isabelle, Nourisson, Elsa, Philippe, Elodie, Pommier, Valentine, Arveiler, Benoit, Nabarette, Hervé, de Feraudy, Yvan, Raclet, Virginie, Ramousset, Carole, Reneaud, Hélène, Richard, Hugo, Romain, Sarah, Bouffard-Dubeau, Catherine, Pomies, Christine, Attarian, Shahram, Stalens, Caroline, Vaidie, Amandine, Espil-Taris, Caroline, and Laugel, Vincent
- Abstract
L’amyotrophie spinale infantile (SMA) liée au gène SMN1 est une maladie génétique neuromusculaire caractérisée par une perte des motoneurones de la corne antérieure de la moelle épinière. La transmission de la maladie se fait sur un mode héréditaire de type autosomique récessif. Dans 95 % des cas, on observe une délétion homozygote de l’exon 7 des 2 gènes SMN1 du patient. Un gène homologue au gène SMN1, le gène SMN2, est peu fonctionnel, en raison d’un épissage de l’exon 7, mais la sévérité de la maladie dépend en partie du nombre variable de copies du gène SMN2. On distingue 4 types cliniques de SMA. Au total, 60 % des SMA de type 1 décèdent avant l’âge de 18 mois. Récemment, trois médicaments ont vu le jour dans la SMA. Le Nusinersen est un oligonucléotide anti-sens, capable de fonctionnaliser le gène SMN2. Il est administré par injections intrathécales répétées. Ce médicament a l’AMM en France pour la prise en charge des types 1, 2 et 3 et a une autorisation pour le traitement présymptomatique de la SMA jusqu’à 3 copies SMN2, indication identique pour la thérapie génique (Onasemnogene abeparvovec, Zolgensma®). Il s’agit d’une injection IV unique. Le Risdiplam, en prise orale quotidienne, est un modificateur d’épissage d’ARN qui a récemment obtenu l’AMM pour le traitement pré-symptomatique. La SMA remplit les critères de Wilson (test génétique fiable, bonne connaissance de la maladie, possibilités thérapeutiques, etc.). Le bénéfice est meilleur lors d’une administration précoce, d’où l’intérêt de la réflexion sur un dépistage néonatal (DNN). Le DNN est disponible à Taiwan, en Belgique, en Allemagne, au Japon, en Australie et aux États-Unis. En France, un projet pilote est en cours depuis début 2023 avec l’AFM-Téléthon dans 2 régions (Nouvelle-Aquitaine et Grand Est), ce qui représente 2×55 000 naissances/an, soit 32 enfants atteints de SMA attendus sur 2 ans. Le test de dépistage repose sur la recherche de la délétion homozygote du gène SMN1 par technique de biologie moléculaire. En cas de positivité, un nouveau prélèvement à visé diagnostique sera réalisé pour étudier le nombre de copies SMN2. Une fois le diagnostic confirmé et l’annonce réalisée, le dossier du patient sera passé en RCP, afin de définir les modalités thérapeutiques, selon le phénotype et le nombre de copies SMN2.
- Published
- 2023
- Full Text
- View/download PDF
19. A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
- Author
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Delvallée C, Nicaise S, Antin M, Leuvrey AS, Nourisson E, Leitch CC, Kellaris G, Stoetzel C, Geoffroy V, Scheidecker S, Keren B, Depienne C, Klar J, Dahl N, Deleuze JF, Génin E, Redon R, Demurger F, Devriendt K, Mathieu-Dramard M, Poitou-Bernert C, Odent S, Katsanis N, Mandel JL, Davis EE, Dollfus H, and Muller J
- Subjects
- Cohort Studies, Female, Founder Effect, Gene Frequency, Humans, Male, Mutagenesis, Insertional, Pedigree, Whole Genome Sequencing, Bardet-Biedl Syndrome genetics, Microtubule-Associated Proteins genetics, Retroelements
- Abstract
Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinitis pigmentosa, obesity, polydactyly, cognitive impairment and renal failure. Pathogenic variants in 24 genes account for the molecular basis of >80% of cases. Toward saturated discovery of the mutational basis of the disorder, we carefully explored our cohorts and identified a hominid-specific SINE-R/VNTR/Alu type F (SVA-F) insertion in exon 13 of BBS1 in eight families. In six families, the repeat insertion was found in trans with c.1169 T > G, p.Met390Arg and in two families the insertion was found in addition to other recessive BBS loci. Whole genome sequencing, de novo assembly and SNP array analysis were performed to characterize the genomic event. This insertion is extremely rare in the general population (found in 8 alleles of 8 BBS cases but not in >10 800 control individuals from gnomAD-SV) and due to a founder effect. Its 2435 bp sequence contains hallmarks of LINE1 mediated retrotransposition. Functional studies with patient-derived cell lines confirmed that the BBS1 SVA-F is deleterious as evidenced by a significant depletion of both mRNA and protein levels. Such findings highlight the importance of dedicated bioinformatics pipelines to identify all types of variation., (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2021
- Full Text
- View/download PDF
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