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NA24202 DNA from LCL

Description:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3
PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1

Affected:

Yes

Sex:

Male

Age:

7 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Muscular Dystrophies
CMD Specific
Class Congenital Muscle Diseases
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Ethnicity Not Hispanic/Latino
Ethnicity English, Irish, Scottish
Country of Origin USA
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; symptom onset at 2-5 years age range; maximum motor function ever achieved and current maximum motor function: climbing stairs with handrail; held head up at 10 months, turned in bed at 18 months, sat at 15 months, stood at 18 months; walked indoors at 4 years with assistance, walked outdoor at 4.5 years with assistance, climbed stairs at 4.5 years with handrail; cannot run; brain involvement; abnormal CT scan revealed polymicrogyria and cerebellar cysts; CMD confirmed by blood test/creatine kinase abnormal, brain MRI, muscle imaging, and genetic testing; POMGT1 sequencing revealed: a heterozygous c.1895+1G>T mutation. This change is believed to be pathogenic, causing a splice donor site error affecting intron 21 processing; a homozygous c.1867A>G variant (p.M623V) was also identified but is not believed to be pathogenic; two additional polymorphisms were identified: ex7 heterozygous c.636C>T (p.F212F) and ex8 heterozygous c.681A>G (p.K227F).

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene POMGNT1
Chromosomal Location 1p34.1
Allelic Variant 1 ; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIS), TYPE A, 3
Identified Mutation IVS21+1G>T

Phenotypic Data

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Remarks Clinically affected; symptom onset at 2-5 years age range; maximum motor function ever achieved and current maximum motor function: climbing stairs with handrail; held head up at 10 months, turned in bed at 18 months, sat at 15 months, stood at 18 months; walked indoors at 4 years with assistance, walked outdoor at 4.5 years with assistance, climbed stairs at 4.5 years with handrail; cannot run; brain involvement; abnormal CT scan revealed polymicrogyria and cerebellar cysts; CMD confirmed by blood test/creatine kinase abnormal, brain MRI, muscle imaging, and genetic testing; POMGT1 sequencing revealed: a heterozygous c.1895+1G>T mutation. This change is believed to be pathogenic, causing a splice donor site error affecting intron 21 processing; a homozygous c.1867A>G variant (p.M623V) was also identified but is not believed to be pathogenic; two additional polymorphisms were identified: ex7 heterozygous c.636C>T (p.F212F) and ex8 heterozygous c.681A>G (p.K227F).

External Links

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Gene Cards POMGNT1
Gene Ontology GO:0000139 Golgi membrane
GO:0003827 alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity
GO:0006487 N-linked glycosylation
GO:0016757 transferase activity, transferring glycosyl groups
NCBI Gene Gene ID:4203
Gene ID:55624
NCBI GTR 253280 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3
606822 PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1
OMIM 253280 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3
606822 PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1
Omim Description MEB DISEASE
  MUSCLE-EYE-BRAIN DISEASE
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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