GM20101
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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| Gene |
ALG12 |
| Chromosomal Location |
22q13.33 |
| Allelic Variant 1 |
S275N; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig |
| Identified Mutation |
SER275ASN |
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| Gene |
ALG12 |
| Chromosomal Location |
22q13.33 |
| Allelic Variant 2 |
; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig |
| Identified Mutation |
29delG |
| Remarks |
Clinically affected; intrauterine growth retardation led to delivery at 30 weeks gestation; birth weight 945 g (5th percentile); birth length 34.5 cm (<3rd percentile); head circumference at birth 27 cm (25th percentile); perineal hypospadia; micropenis; failure to thrive; gastroesophageal reflux; enhanced suprapubic and gluteal fat pads; fat atrophy of hips; inverted nipples; long, thin face; prominent nasal bridge and tip; epicanthal folds; large protruding ears; posterior plagiocephaly, asymmetry, and left ventricle enlargement noted on head ultrasound; hypotonia; delayed gross motor development (crawled at 13 months and walked unassisted at 33 months); delayed speech development (first word at 10 months; had 5 words and babbled at 3 years 4 months); higher frequency of common infections; low IgG, total cholesterol, antithrombin-III, and factor XIa; normal protein C and S; sporadic increased liver transaminases; carbohydrate deficient transferrin assayed by electrospray ionization mass spectrometry was abnormal: 1 chain/2 chains ratio = 0.492 (normal < or = to 0.074) and 0 chains/2 chains ratio = 0.086 (normal < or = to 0.022); donor subject is a compound heterozygote : one allele has a G>A transition at nucleotide 824 in exon 6 of the ALG12 gene [824G>A] resulting in a substitution of asparagine for serine at codon 275 [Ser275Asn(S275N)] and a second allele has a 29delG in exon 1 of the ALG12 gene which causes a frameshift and results in the introduction of a premature stop codon after 19 amino acids. |
| 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 |
1:3 |
| 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 |
Sodium Pyruvate 100mM |
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