AI Article Synopsis

  • The study investigates the clinical and genetic characteristics of β-galactosidase deficiency, focusing on two conditions: GM1-gangliosidosis and mucopolysaccharidosis IVB (MPSIVB).
  • Researchers analyzed data from 52 patients, finding a range of clinical symptoms in GM1-gangliosidosis from severe prenatal forms to adult onset.
  • The study identified numerous genetic variants, including 18 new ones, linking specific variants to distinct types of these disorders, ultimately aiming to improve patient classification and management.

Article 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 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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Source
http://dx.doi.org/10.1136/jmedgenet-2020-107510DOI Listing

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