GM20944
Fibroblast from Skin, Unspecified
Description:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 1, CATALYTIC SUBUNIT; DPM1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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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 |
DPM1 |
| Chromosomal Location |
20q13.13 |
| Allelic Variant 1 |
603503.0001; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie |
| Identified Mutation |
ARG92GLY; In a patient with congenital disorder of glycosylation type Ie (608799), Kim et al. (J Clin Invest 105:191-198, 2000) identified a homozygous 274C-G transversion in the DPM1 gene, resulting in an arg92-to-gly (R92G) substitution. |
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| Gene |
DPM1 |
| Chromosomal Location |
20q13.13 |
| Allelic Variant 2 |
603503.0001; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie |
| Identified Mutation |
ARG92GLY; In a patient with congenital disorder of glycosylation type Ie (608799), Kim et al. (J Clin Invest 105:191-198, 2000) identified a homozygous 274C-G transversion in the DPM1 gene, resulting in an arg92-to-gly (R92G) substitution. |
| Remarks |
Clinically affected; markedly hypotonic in neonatal period; cyanotic/apneic spells in neonatal period associated with abnormal EEG; evaluated at age 10 months due to developmental delay, hypotonia, seizures, and acquired microcephaly (5th percentile for age); seizures medically intractable; normal height and weight; flat occiput and nasal bridge; downslanting palpebral fissures; telangiectasia on eyelids; hemangiomas of occiput and sacrum; high, narrow palate; mild shortening of extremities, especially arms; inverted V shape to mouth with diminished movement on crying; increased deep tendon reflexes; cortical blindness; low antithrombin III; increased creatine kinase; normal ammonia and urine oligosaccharides; normal karyotype; MR spectroscopy demonstrated normal spectra in voxels in left frontoparietal white matter and right basal ganglia; MRI of head showed delayed myelination; abnormal isoelectric focusing of transferrin; normal phosphomannomutase (3.1 nmol/min/mg) and phosphomannose isomerase (8.9 nmol/min/mg) activity; oligosaccharides from donor subject were mostly Endo H resistant; altered LLO synthesis; metabolic labeling of fibroblasts produced a truncated dolichol-linked precursor oligosaccharide with 5 mannose residues, instead of the normal precursor with 9 mannose residues; donor subject is homozygous for a C>G transversion at nucleotide 274 of the DPM1 gene [274C>G] resulting in a substitution of glycine for arginine at codon 92 [Arg92Gly (R92G)].
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| Kim S, Westphal V, Srikrishna G, Mehta DP, Peterson S, Filiano J, Karnes PS, Patterson MC, Freeze HH, Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) The Journal of clinical investigation105:191-8 2000 |
| PubMed ID: 10642597 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
10% |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum |
| Supplement |
- |
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