Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

Abdellah Tebani; Bénédicte Sudrié-Arnaud; Ivana Dabaj; Stéphanie Torre; Laur Domitille; Sarah Snanoudj; Benedicte Heron; Thierry Levade; Catherine Caillaud; Sabrina Vergnaud; Pascale Saugier-Veber; Sophie Coutant; Hélène Dranguet; Roseline Froissart; Majed Al Khouri; Yves Alembik; Julien Baruteau; Jean-Baptiste Arnoux; Anais Brassier; Anne-Claire Brehin; Tiffany Busa; Aline Cano; Brigitte Chabrol; Christine Coubes; Isabelle Desguerre; Martine Doco-Fenzy; Bernard Drenou; Nursel Elcioglu; Solaf Elsayed; Alain Fouilhoux; Céline Poirsier; Alice Goldenberg; Philippe Jouvencel; Alice Kuster; François Labarthe; Leila Lazaro; Samia Pichard; Serge Rivera; Sandrine Roche; Stéphanie Roggerone; Agathe Roubertie; Sabine Sigaudy; Marta Spodenkiewicz; Marine Tardieu; Catherine Vanhulle; Stéphane Marret; Soumeya Bekri

doi:10.1136/jmedgenet-2020-107510

Journal Articles Journal of Medical Genetics Year : 2020

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

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Abdellah Tebani

Function : Author

Bénédicte Sudrié-Arnaud

Function : Author

Ivana Dabaj

Function : Author

Stéphanie Torre

Function : Author

Laur Domitille

Function : Author

Sarah Snanoudj

Function : Author
PersonId : 1170569
ORCID : 0000-0002-8382-056X

Benedicte Heron

Function : Author

Thierry Levade

Function : Author

Catherine Caillaud

Function : Author

Sabrina Vergnaud

Function : Author

Pascale Saugier-Veber

Function : Author

Sophie Coutant

Function : Author

Hélène Dranguet

Function : Author

Roseline Froissart

Function : Author

Majed Al Khouri

Function : Author

Yves Alembik

Function : Author

Julien Baruteau

Function : Author

Jean-Baptiste Arnoux

Function : Author

Anais Brassier

Function : Author

Anne-Claire Brehin

Function : Author

Tiffany Busa

Function : Author

Aline Cano

Function : Author

Brigitte Chabrol

Function : Author

Christine Coubes

Function : Author

Isabelle Desguerre

Function : Author

Martine Doco-Fenzy

Function : Author

Bernard Drenou

Function : Author

Nursel Elcioglu

Function : Author

Solaf Elsayed

Function : Author

Alain Fouilhoux

Function : Author

Céline Poirsier

Function : Author

Alice Goldenberg

Function : Author

Philippe Jouvencel

Function : Author

Alice Kuster

Function : Author

Physiopathologie des Adaptations Nutritionnelles

Centre hospitalier universitaire de Nantes

François Labarthe

Function : Author

Leila Lazaro

Function : Author

Samia Pichard

Function : Author

Serge Rivera

Function : Author

Sandrine Roche

Function : Author

Stéphanie Roggerone

Function : Author

Agathe Roubertie

Function : Author
PersonId : 760659
ORCID : 0000-0002-8180-4857

Sabine Sigaudy

Function : Author

Marta Spodenkiewicz

Function : Author

Marine Tardieu

Function : Author

Catherine Vanhulle

Function : Author

Stéphane Marret

Function : Author

Soumeya Bekri

Function : Correspondent author
PersonId : 935826

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Université de Rouen Normandie

Abstract

Introduction 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). 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.

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https://hal.inrae.fr/hal-03797489

Submitted on : Tuesday, October 4, 2022-6:03:24 PM

Last modification on : Tuesday, March 7, 2023-6:12:40 PM

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hal-03797489 , version 1 (04-10-2022)

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HAL Id : hal-03797489 , version 1
DOI : 10.1136/jmedgenet-2020-107510
PUBMED : 33737400
WOS : 000728621300001

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Abdellah Tebani, Bénédicte Sudrié-Arnaud, Ivana Dabaj, Stéphanie Torre, Laur Domitille, et al.. Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency. Journal of Medical Genetics, 2020, 59 (4), pp.377-384. ⟨10.1136/jmedgenet-2020-107510⟩. ⟨hal-03797489⟩

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Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

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