Description:
CRIGLER-NAJJAR SYNDROME
UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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ENGLISH
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
UGT1A1 |
| Chromosomal Location |
2q37 |
| Allelic Variant 1 |
191740.0002; CRIGLER-NAJJAR SYNDROME, TYPE I |
| Identified Mutation |
SER376PHE; In 2 first cousins from a consanguineous family with Crigler-Najjar syndrome type I, Erps et al. [J. Clin. Invest. 93: 564-570 (1994)] identified a C-to-T transition in the second position of codon 376, predicting a change of serine to phenylalanine in all UGT1-encoded UDPGTs, including the primary bilirubin UDPGT isoform. The patients were homozygous for the mutation. |
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| Gene |
UGT1A1 |
| Chromosomal Location |
2q37 |
| Allelic Variant 2 |
191740.0002; CRIGLER-NAJJAR SYNDROME, TYPE I |
| Identified Mutation |
SER376PHE; In 2 first cousins from a consanguineous family with Crigler-Najjar syndrome type I, Erps et al. [J. Clin. Invest. 93: 564-570 (1994)] identified a C-to-T transition in the second position of codon 376, predicting a change of serine to phenylalanine in all UGT1-encoded UDPGTs, including the primary bilirubin UDPGT isoform. The patients were homozygous for the mutation. |
| Remarks |
First cousin of GM09218; persistent unconjugated hyperbilirubinemia; no evidence of neurologic or cognitive impairment; parents are third cousins; the donor subject is homozygous for a C-to-T transition (TCC>TTC) in exon 4 of the UGT1A1 gene which results in a substitution of phenylalanine for serine at codon 376 [SER376PHE (S376F)]. |
| Erps LT, Ritter JK, Hersh JH, Blossom D, Martin NC, Owens IS, Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro. J Clin Invest93(2):564-70 1994 |
| PubMed ID: 7906695 |
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