Skeletal dysplasia

Gene: MANBA

Green List (high evidence)

Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD), at least 3 cases. This gene doesn't appear to be linked to any particular skeletal dysplasia. There are a few cases with facial dysmorphism and a mention of bone disease. One to discuss

Created: 18 Apr 2019, 1:51 p.m.

Phenotypes
Mannosidosis, beta 248510

I don't know

Comment on list classification: Only 1 family reported with a strong skeletal phenotype so rating amber for now.

Created: 21 Nov 2019, 4:22 p.m. | Last Modified: 21 Nov 2019, 4:22 p.m.

Panel Version: 1.233

Associated with Mannosidosis, beta #248510 (AR) in OMIM. No clear skeletal phenotype listed in the clinical features in OMIM.

>3 cases reported with homozygous or compound het variants in OMIM.

PMID: 2079835 - Kleijer et al 1990 - report a family with Mannosidosis in which a homozygous variant in the MANBA gene was later identified by Alkhayat et al. (1998). Some affected individuals showed scoliosis, one individual showed deformities of the thorax, lumbar hyperlordosis and nanism.

PMID: 16401745 - Sedel et al 2006 - 1 case of boy with beta-mannosidase deficiency. No skeletal phenotype reported.
PMID: 18980795 - Labauge et al 2009 - 1 case of boy with beta-mannosidase deficiency. No skeletal phenotype reported.

Created: 21 Nov 2019, 4:20 p.m. | Last Modified: 21 Nov 2019, 4:20 p.m.

Panel Version: 1.230

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: MANSB but this was clarified as being MANBA; Initial rating suggestion: green if SD

Created: 18 Apr 2019, 1:50 p.m.