RGD Reference Report - GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. - Rat Genome Database
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GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

Authors: Jensen, BS  Willer, T  Saade, DN  Cox, MO  Mozaffar, T  Scavina, M  Stefans, VA  Winder, TL  Campbell, KP  Moore, SA  Mathews, KD 
Citation: Jensen BS, etal., Hum Mutat. 2015 Dec;36(12):1159-63. doi: 10.1002/humu.22898. Epub 2015 Sep 23.
RGD ID: 11530903
Pubmed: (View Article at PubMed) PMID:26310427
DOI: Full-text: DOI:10.1002/humu.22898

Mutations in GDP-mannose pyrophosphorylase B (GMPPB), a catalyst for the formation of the sugar donor GDP-mannose, were recently identified as a cause of muscular dystrophy resulting from abnormal glycosylation of alpha-dystroglycan. In this series, we report nine unrelated individuals with GMPPB-associated dystroglycanopathy. The most mildly affected subject has normal strength at 25 years, whereas three severely affected children presented in infancy with intellectual disability and epilepsy. Muscle biopsies of all subjects are dystrophic with abnormal immunostaining for glycosylated alpha-dystroglycan. This cohort, together with previously published cases, allows preliminary genotype-phenotype correlations to be made for the emerging GMPPB common variants c.79G>C (p.D27H) and c.860G>A (p.R287Q). We observe that c.79G>C (p.D27H) is associated with a mild limb-girdle muscular dystrophy phenotype, whereas c.860G>A (p.R287Q) is associated with a relatively severe congenital muscular dystrophy typically involving brain development. Sixty-six percent of GMPPB families to date have one of these common variants.

Annotation

Disease Annotations    

Phenotype Annotations    

Human Phenotype
Objects Annotated

Genes (Rattus norvegicus)
Gmppb  (GDP-mannose pyrophosphorylase B)

Genes (Mus musculus)
Gmppb  (GDP-mannose pyrophosphorylase B)

Genes (Homo sapiens)
GMPPB  (GDP-mannose pyrophosphorylase B)


Additional Information