GM20100
Fibroblast from Skin, Unspecified
Description:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig
DOLICHYL-P-MANNOSE:MAN-7-GlcNAc-2-PP-DOLICHYL-ALPHA-6-MANNOSYLTRANSFERASE
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
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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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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 |
ALG12 |
| Chromosomal Location |
22q13.33 |
| Allelic Variant 1 |
Y230D; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig |
| Identified Mutation |
TYR230ASP |
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| Gene |
ALG12 |
| Chromosomal Location |
22q13.33 |
| Allelic Variant 2 |
R311C; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig |
| Identified Mutation |
ARG311CYS |
| Remarks |
Clinically affected; delivered at 31 weeks gestation due to gestational diabetes; birth weight 2296 g (>95th percentile); poor sucking and inadequate temperature regulation noted at birth; micropenis; bilateral epicanthal folds; widespread, flat nipples; hypotonia; global developmental delay (crawled at 2 years, walked unassisted at 5 years, virtually no speech development until 5 years and subsequently developed a few words); pronounced cerebellar hypoplasia/atrophy noted at age 4 years; ambulates slowly with wide-based gait for short distances; failure to thrive; growth retardation; gastroesophageal reflux; 3 episodes of pneumonia during first year of life; recurrent otitis media; deficient total IgG with the deficiency confined to subclass IgG1; low total cholesterol and LDL, antithrombin-III, factor XIa, protein C, and hypoalbuminemia; normal protein S; normal to high liver transaminases; carbohydrate deficient transferrin assayed by electrospray ionization mass spectrometry was abnormal: 1 chain/2 chains ratio = 1.246 (normal < or = to 0.074) and 0 chains/2 chains ratio = 0.033 (normal < or = to 0.022); donor subject is a compound heterozygote: one allele has a T>G transversion at nucleotide 688 in exon 5 of the ALG12 gene [688T>G] resulting in a substitution of aspartic acid for tyrosine at codon 230 [Tyr230Asp(Y230D)] and a second allele has a C>T transition at nucleotide 931 in exon 6 of the ALG12 gene [931C>T] resulting in a substitution of cysteine for arginine at codon 311 [Arg311Cys(R311C)]. |
| Eklund EA, Newell JW, Sun L, Seo NS, Alper G, Willert J, Freeze HH, Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig. Mol Genet Metab84(1):25-31 2005 |
| PubMed ID: 15639192 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
8% |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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