β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in <i>MANBA</i>

Blomqvist, Maria; Smeland, Marie Falkenberg; Lindgren, J. U.; Sikora, Per; Stensland, Hilde Monica Frostad Riise; Asin-Cayuela, Jorge

doi:10.1101/mcs.a003954

Cited by 16 publications

(16 citation statements)

References 39 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…β-mannosidosis often manifests with a wide phenotypic heterogeneity. Its symptoms may include developmental delay in various degrees of severity, behavioral abnormalities, frequent infections and hearing loss, as well as demyelinating peripheral neuropathy [36].…”

Section: Chronic Demyelinating Neuropathiesmentioning

confidence: 99%

Update on Neuropathies in Inborn Errors of Metabolism

et al. 2021

View full text Add to dashboard Cite

Neuropathies are relatively common in inborn errors of metabolism (IEMs); however, due to the early onset and severe, progressive course of many IEMs, they have not been very well researched yet. This article aims to review and compare neuropathies in inborn errors of metabolism, mostly with childhood and juvenile onset. Some of these diseases are treatable if diagnosed early and in many cases, the therapy can not only slow down disease progression, but can also reverse the changes already made by the condition.

show abstract

Section: Chronic Demyelinating Neuropathiesmentioning

confidence: 99%

Update on Neuropathies in Inborn Errors of Metabolism

et al. 2021

View full text Add to dashboard Cite

show abstract

“…Moreover, several LDs remain undiagnosed after extensive genetic and biochemical investigations due to a wide phenotypic spectrum of nonspecific manifestations or lack of available clinical tests, so WES may be used to identify undiagnosed patients [25]. Although WGS is still not part of a routine clinical diagnosis, it has often been used in a research context to aid in the characterization of complex alterations [26,27]. Notably, ethical aspects are one of the challenges of WES and WGS due to the possibility of identifying variants in genes not related to the main phenotype [28].…”

Section: Molecular Diagnosis Advances For Lysosomal Diseasesmentioning

confidence: 99%

Precision Medicine for Lysosomal Disorders

et al. 2020

View full text Add to dashboard Cite

Precision medicine (PM) is an emerging approach for disease treatment and prevention that accounts for the individual variability in the genes, environment, and lifestyle of each person. Lysosomal diseases (LDs) are a group of genetic metabolic disorders that include approximately 70 monogenic conditions caused by a defect in lysosomal function. LDs may result from primary lysosomal enzyme deficiencies or impairments in membrane-associated proteins, lysosomal enzyme activators, or modifiers that affect lysosomal function. LDs are heterogeneous disorders, and the phenotype of the affected individual depends on the type of substrate and where it accumulates, which may be impacted by the type of genetic change and residual enzymatic activity. LDs are individually rare, with a combined incidence of approximately 1:4000 individuals. Specific therapies are already available for several LDs, and many more are in development. Early identification may enable disease course prediction and a specific intervention, which is very important for clinical outcome. Driven by advances in omics technology, PM aims to provide the most appropriate management for each patient based on the disease susceptibility or treatment response predictions for specific subgroups. In this review, we focused on the emerging diagnostic technologies that may help to optimize the management of each LD patient and the therapeutic options available, as well as in clinical developments that enable customized approaches to be selected for each subject, according to the principles of PM.

show abstract

“…[ 1 ] So far, 23 cases of β-mannosidosis in 18 families have been reported. [ 2 ] β-Mannosidosis was first described in 1986. [ 3 ] Here, we are reporting genetically proven β-mannosidosis in Indian siblings from a single family.…”

Section: Introductionmentioning

confidence: 99%

Familial global developmental delay secondary to β-mannosidosis

et al. 2021

View full text Add to dashboard Cite

A BSTRACT β-Mannosidosis is a rare lysosomal storage disorder that is caused by a deficiency of β-mannosidase activity, which is due to mutations of the MANBA gene. Two Indian siblings born out of a third-degree consanguineous marriage presented during late infancy with global developmental delay. On examination, both the siblings had hypotonia; hepatosplenomegaly was present in the first sibling whereas it was absent in the second sibling. Fundus evaluation, hearing assessment, and skeletal survey were normal in both siblings. Enzyme assay showed the absence of the β-mannosidase enzyme. Next-generation sequencing showed a homozygous variation of c.1317 + 1G>A in intron 10 of the MANBA (–) gene in the elder sibling. Sanger sequencing confirmed the same mutation in the homozygous state in both siblings and in the heterozygous state in both parents.

show abstract

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

Cited by 16 publications

References 39 publications

Update on Neuropathies in Inborn Errors of Metabolism

Update on Neuropathies in Inborn Errors of Metabolism

Precision Medicine for Lysosomal Disorders

Familial global developmental delay secondary to β-mannosidosis

Contact Info

Product

Resources

About