Crigler-najjar syndrome type 2: Novel UGT1A1 mutation

Indian Journal of Human Genetics

Volumn 18, Issue 2, 2012, Pages 233-234

  Lohse, Peter ^a   Nair, Karippoth ^b   Nampoothiri, Sheela ^c  

^a GOVERNMENT MEDICAL COLLEGE   (India)

^b UNIVERSITY OF MUNICH   (Germany)

^c AMRITA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Arias syndrome; Crigler Najjar syndrome type 2; kernicterus; UGT1A1; unconjugated hyperbilirubinemia

Indexed keywords

GLUCURONOSYLTRANSFERASE 1A1; LEUCINE; PHENOBARBITAL; PROLINE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CRIGLER NAJJAR SYNDROME; CRIGLER NAJJAR SYNDROME TYPE 2; EXON; FEMALE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPERBILIRUBINEMIA; NEWBORN JAUNDICE; PHOTOTHERAPY;

ANAS;

EID: 84866481172     PISSN: 09716866     EISSN: 1998362X     Source Type: Journal    
DOI: 10.4103/0971-6866.100776     Document Type: Article

References (9)

1. Costa E. Hematologically important mutations: Bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes. Blood Cells Mol Dis 2006;36:77-80.
2. Crigler JF, Najjar VA. Congenital familial non-haemolytic jaundice with kernicterus. Pediatrics 1952;10:169-80.
3. Arias IM, Gartner LM, Cohen M, Ezzer JB, Levi AJ. Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase defi ciency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity. Am J Med 1969;47:395-409.
4. Seppen J, Bosma PJ, Goldhoorn BG, Bakker CT, Chowdhury JR, Chowdhury NR, et al. Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase. J Clin Invest 1994;94:2385-91.
5. Guru FR, Sibal A. Liver Transplant for Crigler-Najjar syndrome. Indian Pediatr 2010;47:285-6.
6. Hafkamp AM, Nelisse-Haak R, Sinaasappel M, Oude Elferink RP, Verkade HJ. Orlistat treatment of unconjugated hyperbilirubinemia in Crigler-Najjar disease: A randomized controlled trial. Pediatr Res 2007;62:725-30.
7. Jansen PL. Diagnosis and management of Crigler-Najjar syndrome. Eur J Pediatr 1999;158 Suppl 2:S89-94.
8. Chalassani N, Chowdhuri NR, Chowdhuri JR, Boyer TD. Kernicterus in an adult who is heterozygous for Crigler- Najjar syndrome and homozygous for Gilbert-type genetic defect. Gastroenterology 1997;112:2099-103.
9. Persico M, Romano M, Muraca M, Gentile S. Responsiveness to phenobarbital in an adult with Crigler-Najjar disease associated with neurological involvement and skin hyperextensibility. Hepatology 1991;13:213-5.