Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype.

ABSTRACT:

Background

Morquio B disease (MBD) is a distinct GLB1-related dysostosis multiplex presenting a mild phenocopy of GALNS-related Morquio A disease. Previously reported cases from European countries carry the W273L variant on at least one GLB1 allele and exhibit a pure skeletal phenotype (pure MBD). Only a minority of MBD cases have been described with additional neuronopathic findings (MBD plus).

Objectives and methods

With the aim to further describe patterns of MBD-related dysostosis multiplex, we analyzed clinical, biochemical, and genetic features in 17 cases with GLB1-related dysostosis multiplex living and diagnosed in Brazil.

Results

About 14 of the 17 individuals had three or more skeletal findings characteristic of Mor

SUBMITTER: Stockler-Ipsiroglu S 

PROVIDER: S-EPMC8260481 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature