Description:
CRIGLER-NAJJAR SYNDROME
UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Ethnicity
|
ITALIAN
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| glucuronosyltransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.4.1.17; 0% activity. |
| |
| Gene |
UGT1A1 |
| Chromosomal Location |
2q37 |
| Allelic Variant 1 |
191740.0001; CRIGLER-NAJJAR SYNDROME, TYPE I |
| Identified Mutation |
13-BP DEL, EX2; In a patient with Crigler-Najjar syndrome type I, the offspring of a consanguineous mating, Ritter et al. [J. Clin. Invest. 90: 150-155 (1992)] demonstrated a 13-bp deletion in exon 2. The mutation was predicted to result in the synthesis of a severely truncated bilirubin transferase isozyme that lacked a highly conserved sequence in the carboxyl-terminus and the characteristic membrane (endoplasmic reticulum)-anchoring segment of the protein molecule. |
| |
| Gene |
UGT1A1 |
| Chromosomal Location |
2q37 |
| Allelic Variant 2 |
191740.0001; CRIGLER-NAJJAR SYNDROME, TYPE I |
| Identified Mutation |
13-BP DEL, EX2; In a patient with Crigler-Najjar syndrome type I, the offspring of a consanguineous mating, Ritter et al. [J. Clin. Invest. 90: 150-155 (1992)] demonstrated a 13-bp deletion in exon 2. The mutation was predicted to result in the synthesis of a severely truncated bilirubin transferase isozyme that lacked a highly conserved sequence in the carboxyl-terminus and the characteristic membrane (endoplasmic reticulum)-anchoring segment of the protein molecule. |
| Remarks |
Increasing unconjugated hyperbilirubinemia from birth; 15-24 mg% bilirubin in blood; level controlled with phototherapy; absent liver bilirubin glucuronyltransferase; absent bilirubin conjugates in bile; parents are related; the donor subject is homozygous for a 13 bp deletion in exon 2 of the UGT1A1 gene. |
| Doman JL, Pandey S, Neugebauer ME, An M, Davis JR, Randolph PB, McElroy A, Gao XD, Raguram A, Richter MF, Everette KA, Banskota S, Tian K, Tao YA, Tolar J, Osborn MJ, Liu DR, Phage-assisted evolution and protein engineering yield compact, efficient prime editors Cell186:3983-4002.e26 2023 |
| PubMed ID: 37657419 |
| |
| Ritter JK, Yeatman MT, Ferreira P, Owens IS, Identification of a genetic alteration in the code for bilirubin
UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I
patient. J Clin Invest90(1):150-5 1992 |
| PubMed ID: 1634606 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|