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Case Reports
. 2020 Mar 6;20(1):62.
doi: 10.1186/s12876-020-01192-4.

A case report of a novel 22 bp duplication within exon 1 of the UGT1A1 in a Sudanese infant with Crigler-Najjar syndrome type I

Sailaja Valmiki  1 , Kiran Kumar Mandapati  2 , Leela Krishna Vamsee Miriyala  2 , Chayarani Chandrashekhar Kelgeri  3 , Mohamed Rela  3 , Naresh P Shanmugam  3 , Durga Rao Vegulada  4
Affiliations
Case Reports

A case report of a novel 22 bp duplication within exon 1 of the UGT1A1 in a Sudanese infant with Crigler-Najjar syndrome type I

Sailaja Valmiki et al. BMC Gastroenterol. .

Abstract

Background: Crigler Najjar type 1 is a rare autosomal recessive condition caused by the absence of UDPGT enzyme due to mutations in the UGT1A1 gene. This enzyme is responsible for elimination of unconjugated bilirubin from the body by glucuronidation. Affected individuals are at risk for kernicterus and require lifelong phototherapy. Liver transplant is the only definitive treatment.

Case presentation: Here we report a case of a 6 month old Sudanese female infant with CN1 whose molecular analysis revealed a novel homozygous 22 base pair duplication (c.55_76dup) in the coding exon 1 of the UGT1A1 gene. This 22 bp duplication causes a frame shift leading to a premature stop codon. She underwent a successful liver transplant at 7 months of age and is doing well at 1 year follow-up.

Conclusion: This study shows that molecular diagnosis helps in precise diagnosis of CN1 and in prognosis, prompt medical intervention and appropriate therapy. This particular 22 bp duplication within the coding region of UGT1A1 can be a founder mutation in the Sudanese population.

Keywords: Autosomal recessive; Bilirubin; Crigler-Najjar syndrome; Liver transplant; Mutation; UGT1A1.

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Conflict of interest statement

SV, KKM, DRV,LKVM are employees of GenesNLife Healthcare Pvt., Ltd. CCK, MR and NS are employees of Gleneageles Global hospitals.

Figures

Fig. 1
Fig. 1
Detailed Pedigree of the family
Fig. 2
Fig. 2
Normal wild type TATA box (A(TA)6TAA)sequence
Fig. 3
Fig. 3
A novel homozygous 22 bp duplication (c.55_76dup) in the coding region of the Exon1
See this image and copyright information in PMC

References

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