β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA.

ABSTRACT: β-Mannosidosis is a lysosomal storage disorder characterized by accumulation of disaccharides due to deficiency of the lysosomal enzyme β-mannosidase. The disease is caused by mutations in MANBA and is extremely rare in humans. Although the clinical presentation is heterogeneous, common symptoms include various degrees of developmental delay, behavioral disturbances, hearing loss, and frequent infections. We report a 15-yr-old girl presenting with mild intellectual disability, sensorineural hearing loss, severe behavioral disturbances, dysmorphic traits, and evolving angiokeratomas. Copy-number variation analysis of next-generation sequencing (NGS) data indicated increased coverage in exons 8-11 of MANBA Low β-mannosidase activity (1 µkatal/kg protein, refv 25-40) established

SUBMITTER: Blomqvist M 

PROVIDER: S-EPMC6549551 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature