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Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency. 2022
Abdellah Tebani, and
Bénédicte Sudrié-Arnaud, and
Ivana Dabaj, and
Stéphanie Torre, and
Laur Domitille, and
Sarah Snanoudj, and
Benedicte Heron, and
Thierry Levade, and
Catherine Caillaud, and
Sabrina Vergnaud, and
Pascale Saugier-Veber, and
Sophie Coutant, and
Hélène Dranguet, and
Roseline Froissart, and
Majed Al Khouri, and
Yves Alembik, and
Julien Baruteau, and
Jean-Baptiste Arnoux, and
Anais Brassier, and
Anne-Claire Brehin, and
Tiffany Busa, and
Aline Cano, and
Brigitte Chabrol, and
Christine Coubes, and
Isabelle Desguerre, and
Martine Doco-Fenzy, and
Bernard Drenou, and
Nursel H Elcioglu, and
Solaf Elsayed, and
Alain Fouilhoux, and
Céline Poirsier, and
Alice Goldenberg, and
Philippe Jouvencel, and
Alice Kuster, and
François Labarthe, and
Leila Lazaro, and
Samia Pichard, and
Serge Rivera, and
Sandrine Roche, and
Stéphanie Roggerone, and
Agathe Roubertie, and
Sabine Sigaudy, and
Marta Spodenkiewicz, and
Marine Tardieu, and
Catherine Vanhulle, and
Stéphane Marret, and
Soumeya Bekri
Department of Metabolic Biochemistry, Rouen University Hospital, Rouen, France.
This study aims to define the phenotypic and molecular spectrum of the two clinical forms of β-galactosidase (β-GAL) deficiency, GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B, MPSIVB). Clinical and genetic data of 52 probands, 47 patients with GM1-gangliosidosis and 5 patients with MPSIVB were analysed. The clinical presentations in patients with GM1-gangliosidosis are consistent with a phenotypic continuum ranging from a severe antenatal form with hydrops fetalis to an adult form with an extrapyramidal syndrome. Molecular studies evidenced 47 variants located throughout the sequence of the GLB1 gene, in all exons except 7, 11 and 12. Eighteen novel variants (15 substitutions and 3 deletions) were identified. Several variants were linked specifically to early-onset GM1-gangliosidosis, late-onset GM1-gangliosidosis or MPSIVB phenotypes. This integrative molecular and clinical stratification suggests a variant-driven patient assignment to a given clinical and severity group. This study reports one of the largest series of b-GAL deficiency with an integrative patient stratification combining molecular and clinical features. This work contributes to expand the community knowledge regarding the molecular and clinical landscapes of b-GAL deficiency for a better patient management.
Related Publications
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Stéphanie Torre, and
Laur Domitille, and
Sarah Snanoudj, and
Benedicte Heron, and
Thierry Levade, and
Catherine Caillaud, and
Sabrina Vergnaud, and
Pascale Saugier-Veber, and
Sophie Coutant, and
Hélène Dranguet, and
Roseline Froissart, and
Majed Al Khouri, and
Yves Alembik, and
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Aline Cano, and
Brigitte Chabrol, and
Christine Coubes, and
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Solaf Elsayed, and
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Solaf Elsayed, and
Alain Fouilhoux, and
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Alice Goldenberg, and
Philippe Jouvencel, and
Alice Kuster, and
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Samia Pichard, and
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Stéphanie Roggerone, and
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Soumeya Bekri
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Anne-Claire Brehin, and
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Brigitte Chabrol, and
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Isabelle Desguerre, and
Martine Doco-Fenzy, and
Bernard Drenou, and
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Solaf Elsayed, and
Alain Fouilhoux, and
Céline Poirsier, and
Alice Goldenberg, and
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Alice Kuster, and
François Labarthe, and
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Samia Pichard, and
Serge Rivera, and
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Anais Brassier, and
Anne-Claire Brehin, and
Tiffany Busa, and
Aline Cano, and
Brigitte Chabrol, and
Christine Coubes, and
Isabelle Desguerre, and
Martine Doco-Fenzy, and
Bernard Drenou, and
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Céline Poirsier, and
Alice Goldenberg, and
Philippe Jouvencel, and
Alice Kuster, and
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Leila Lazaro, and
Samia Pichard, and
Serge Rivera, and
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Sabine Sigaudy, and
Marta Spodenkiewicz, and
Marine Tardieu, and
Catherine Vanhulle, and
Stéphane Marret, and
Soumeya Bekri
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Clinica chimica acta; international journal of clinical chemistry,
Abdellah Tebani, and
Bénédicte Sudrié-Arnaud, and
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Benedicte Heron, and
Thierry Levade, and
Catherine Caillaud, and
Sabrina Vergnaud, and
Pascale Saugier-Veber, and
Sophie Coutant, and
Hélène Dranguet, and
Roseline Froissart, and
Majed Al Khouri, and
Yves Alembik, and
Julien Baruteau, and
Jean-Baptiste Arnoux, and
Anais Brassier, and
Anne-Claire Brehin, and
Tiffany Busa, and
Aline Cano, and
Brigitte Chabrol, and
Christine Coubes, and
Isabelle Desguerre, and
Martine Doco-Fenzy, and
Bernard Drenou, and
Nursel H Elcioglu, and
Solaf Elsayed, and
Alain Fouilhoux, and
Céline Poirsier, and
Alice Goldenberg, and
Philippe Jouvencel, and
Alice Kuster, and
François Labarthe, and
Leila Lazaro, and
Samia Pichard, and
Serge Rivera, and
Sandrine Roche, and
Stéphanie Roggerone, and
Agathe Roubertie, and
Sabine Sigaudy, and
Marta Spodenkiewicz, and
Marine Tardieu, and
Catherine Vanhulle, and
Stéphane Marret, and
Soumeya Bekri
July 1981,
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