Description:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3
PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific |
| Class |
Congenital Muscle Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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English, Irish, Scottish
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Country of Origin
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USA
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| 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 |
| 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). |
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