Description:
MUCOLIPIDOSIS II; ML2; ML II
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
4
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Biochemical characterization after cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
3.54 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| UDP-N-acetylglucosamine--lysosomal-enzyme N-acetylglucosaminephosphotransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.8.17 |
| |
| Gene |
GNPTAB |
| Chromosomal Location |
12q23.3 |
| Allelic Variant 1 |
L730fsX737; MUCOLIPIDOSIS II |
| Identified Mutation |
2352delTinsAAA |
| |
| Gene |
GNPTAB |
| Chromosomal Location |
12q23.3 |
| Allelic Variant 2 |
607840.0011; MUCOLIPIDOSIS II |
| Identified Mutation |
2-BP DEL, 3665TC; In 8 of 9 pedigrees with ML II (252500) and 5 of 7 with ML IIIA (252600), Kudo et al. (Am J Hum Genet 78:451-463, 2006) identified a frameshift mutation in the GNPTAB gene consisting of deletion of 2 nucleotides (3665_3666delTC) beginning at leu1168 and leading to premature termination at amino acid 1172 (L1168fsX1172). This mutation was the most frequent in their study and was found in both the homozygous and compound heterozygous state, in combination with severe mutations (i.e., mutations preventing the generation of active enzyme) in ML II and with mild mutations (i.e., mutations allowing the generation of active enzyme) in ML IIIA. |
| Remarks |
Brother was similarly affected; passage 10 at CCR; deficient fibroblast N-acetylglucosaminylphosphotransferase activity; donor subject is a compound heterozygote: one allele has a 1 bp deletion and a 3 bp insertion at nucleotide 2188 of the GNPTAB gene [c.2188delT/insAAA] and a second allele has a 2 bp deletion at nucleotide 3503 [c.3503delTC] of the GNPTAB gene [start codon location within the transcript used as number 1]; parental mutations (GM02046 and GM2047) were published in Am J Hum Genet 78(3):451-463, 2006 using the first nucleotide of the transcript as number 1
|
| Flint M, Chatterjee P, Lin DL, McMullan LK, Shrivastava-Ranjan P, Bergeron É, Lo MK, Welch SR, Nichol ST, Tai AW, Spiropoulou CF, A genome-wide CRISPR screen identifies N-acetylglucosamine-1-phosphate transferase as a potential antiviral target for Ebola virus Nature communications10:285 2018 |
| PubMed ID: 30655525 |
| |
| Kudo M, Brem MS, Canfield WM, Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are Caused by Mutations in the GlcNAc-Phosphotransferase alpha / beta -Subunits Precursor Gene. Am J Hum Genet78(3):451-63 2006 |
| PubMed ID: 16465621 |
| |
| Buck DW, Hanssens LK, Kennett RH, Mellman WJ, Successful cryopreservation of tissue and skin fibroblast cultures from patients with mucolipidosis II (I-cell disease). Cytogenet Cell Genet29:9-15 1981 |
| PubMed ID: 7460631 |
| |
| Swallow DM, O'Brien JS, Hoogeveen AT, Buck DW, Electrophoretic analysis of glycoprotein enzymes in the sialidoses and mucolipidoses. Ann Hum Genet45:29-37 1981 |
| PubMed ID: 6459053 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
|