Kernicterus caused by a rare genetic variant of Crigler-Najjar Syndrome (c.826G>C)

被引:0
|
作者
Agarwal, Saurabh [1 ]
Kumar, U. K. Kandha [1 ]
Parameswaran, Arun Sree [1 ]
Saini, Lokesh [1 ]
Singh, Kuldeep [1 ]
机构
[1] All India Inst Med Sci, Dept Pediat, Jodhpur, Rajasthan, India
来源
INDIAN JOURNAL OF PEDIATRICS | 2024年 / 91卷 / 12期
关键词
D O I
10.1007/s12098-024-05288-7
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:1316 / 1316
页数:1
相关论文
共 50 条
  • [21] Morbus Gilbert and Crigler-Najjar syndrome type I and II are caused by mutations of the UGT1A1 gene locus
    Kraemer, D
    Scheurlen, M
    MEDIZINISCHE KLINIK, 2002, 97 (09) : 528 - 532
  • [22] Case report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of PKLR and UGT1A1 mutation
    Wu, Huan
    Wu, Long
    Zhang, Quan
    Zhang, Bao-fang
    FRONTIERS IN GENETICS, 2023, 14
  • [23] CRIGLER-NAJJAR SYNDROME TYPE II CAUSED BY HOMOZYGOUS DOUBLE MUTATION [T1456G, G211A] OF UGT1A1 GENE IN A TAIWANESE SIBLING
    Tseng, Y. -Y.
    Yang, Y. -J.
    Huang, S. -C.
    PEDIATRIC RESEARCH, 2010, 68 : 395 - 395
  • [24] Update on a previously reported missense mutation: The c.1160 C>A mutation in the UGT1A1 gene result in Crigler-Najjar syndrome type 1
    Ghorbani, Mohammad Javad
    Dehghani, Seyed Mohsen
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (11):
  • [25] 781 Crigler-Najjar Syndrome Type Ii Caused by Homozygous Double Mutation [T1456G, G211A] of Ugt1A1 Gene in a Taiwanese Sibling
    Y -Y Tseng
    Y -J Yang
    S -C Huang
    Pediatric Research, 2010, 68 : 395 - 395
  • [26] Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects
    Takeuchi, K
    Kobayashi, Y
    Tamaki, S
    Ishihara, T
    Maruo, Y
    Araki, J
    Mifuji, R
    Itani, T
    Kuroda, M
    Sato, H
    Kaito, M
    Adachi, Y
    JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 2004, 19 (09) : 1023 - 1028
  • [27] Crigler-Najjar syndrome, 1952-2000: Learning from parents and patients about a very rare disease and using the Internet to recruit patients for studies
    Lucey, JF
    Suresh, GK
    Kappas, A
    PEDIATRICS, 2000, 105 (05) : 1152 - 1153
  • [28] Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene
    Li, Yan
    Qu, Yu-jin
    Zhong, Xue-mei
    Cao, Yan-yan
    Jin, Li-min
    Bai, Jin-li
    Ma, Xin
    Jin, Yu-wei
    Wang, Hong
    Zhang, Yan-ling
    Song, Fang
    JOURNAL OF ZHEJIANG UNIVERSITY-SCIENCE B, 2014, 15 (05): : 474 - 481
  • [29] Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene
    Yan Li
    Yu-jin Qu
    Xue-mei Zhong
    Yan-yan Cao
    Li-min Jin
    Jin-li Bai
    Xin Ma
    Yu-wei Jin
    Hong Wang
    Yan-ling Zhang
    Fang Song
    Journal of Zhejiang University SCIENCE B, 2014, 15 : 474 - 481
  • [30] A novel stop codon mutation in exon 1 (558C>A) of the UGT1A1 gene in a Thai neonate with Crigler-Najjar syndrome type I
    Wanlapakorn, N.
    Nilyanimit, P.
    Vorawandthanachai, T.
    Deesudjit, T.
    Dumrongpisutikul, N.
    Poovorawan, Y.
    GENETICS AND MOLECULAR RESEARCH, 2015, 14 (01) : 419 - 425