Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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Tebani Abdellah, Sudrié-Arnaud Bénédicte, Dabaj Ivana, Torre Stéphanie, Domitille Laur, Snanoudj Sarah, Heron Benedicte, Levade Thierry, Caillaud Catherine, Vergnaud Sabrina, Saugier-Veber Pascale, Coutant Sophie, Dranguet Hélène, Froissart Roseline, Al Khouri Majed, Alembik Yves, Baruteau Julien, Arnoux Jean-Baptiste, Brassier Anais, Brehin Anne-Claire, Busa Tiffany, Cano Aline, Chabrol Brigitte, Coubes Christine, Desguerre Isabelle, Doco-Fenzy Martine, Drenou Bernard, Elcioglu Nursel H, Elsayed Solaf, Fouilhoux Alain, Poirsier Céline, Goldenberg Alice, Jouvencel Philippe, Kuster Alice, Labarthe François, Lazaro Leila, Pichard Samia, Rivera Serge, Roche Sandrine, Roggerone Stéphanie, Roubertie Agathe, Sigaudy Sabine, Spodenkiewicz Marta, Tardieu Marine, Vanhulle Catherine, Marret Stéphane, Bekri Soumeya
Аннотация
METHODS: Clinical and genetic data of 52 probands, 47 patients with GM1-gangliosidosis and 5 patients with MPSIVB were analysed.
RESULTS: 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.
CONCLUSION: 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.