A Novel Variant (p.Leu1054Arg) in ABCB11 Presenting with Progressive Familial Intrahepatic Cholestasis (PFIC) with Congenital Hypothyroidism

被引:0
|
作者
Agarwal, Saurabh [1 ]
Rajvanshi, Nikhil [1 ]
Goyal, Jagdish Prasad [1 ]
Kumar, Prawin [1 ]
机构
[1] All India Inst Med Sci, Dept Pediat, Jodhpur 342005, Rajasthan, India
来源
INDIAN JOURNAL OF PEDIATRICS | 2024年 / 91卷 / 11期
关键词
D O I
10.1007/s12098-024-05271-2
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:1194 / 1194
页数:1
相关论文
共 23 条
  • [1] Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis
    Treepongkaruna, Suporn
    Gaensan, Amornphun
    Pienvichit, Paneeya
    Luksan, Ondrej
    Knisely, A. S.
    Sornmayura, Pattana
    Jirsa, Milan
    WORLD JOURNAL OF GASTROENTEROLOGY, 2009, 15 (34) : 4339 - 4342
  • [2] Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis
    Suporn Treepongkaruna
    Amornphun Gaensan
    Paneeya Pienvichit
    Ondrej Luksan
    AS Knisely
    Pattana Sornmayura
    Milan Jirsa
    World Journal of Gastroenterology, 2009, 15 (34) : 4339 - 4342
  • [3] Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis
    Ji Sook Park
    Jae Sung Ko
    Jeong Kee Seo
    Jin Soo Moon
    Sung Sup Park
    World Journal of Gastroenterology, 2016, 22 (20) : 4901 - 4907
  • [4] Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis
    Park, Ji Sook
    Ko, Jae Sung
    Seo, Jeong Kee
    Moon, Jin Soo
    Park, Sung Sup
    WORLD JOURNAL OF GASTROENTEROLOGY, 2016, 22 (20) : 4901 - 4907
  • [5] In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy
    Elodie Mareux
    Martine Lapalus
    Amel Ben-Saad
    Isabelle Callebaut
    Thomas Falguières
    Emmanuel Gonzales
    Emmanuel Jacquemin
    Orphanet Journal of Rare Diseases, 16
  • [6] In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy
    Mareux, Elodie
    Lapalus, Martine
    Ben-Saad, Amel
    Callebaut, Isabelle
    Falguieres, Thomas
    Gonzales, Emmanuel
    Jacquemin, Emmanuel
    ORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)
  • [7] Antisense oligonucleotides rescue an intronic splicing variant in the ABCB11 gene that causes progressive familial intrahepatic cholestasis type 2
    Zheng, Yucan
    Zhou, Chunlei
    Zheng, Bixia
    Hu, Guorui
    Wang, Chunli
    Zhou, Wei
    Lu, Yan
    Zhang, Zhihua
    Lin, Qian
    Guo, Hongmei
    Jin, Yu
    Liu, Zhifeng
    Tang, Weibing
    DIGESTIVE AND LIVER DISEASE, 2022, 54 (11) : 1541 - 1547
  • [8] The spectrum of novel ABCB11 gene variations in children with progressive familial intrahepatic cholestasis type 2 in Pakistani cohorts
    Riaz, Hafsa
    Zheng, Bixia
    Zheng, Yucan
    Liu, Zhifeng
    Gu, Hong-mei
    Imran, Muhammad
    Yaqoob, Tahir
    Bhinder, Munir Ahmad
    Zhang, Da-wei
    Zahoor, Muhammad Yasir
    SCIENTIFIC REPORTS, 2024, 14 (01):
  • [9] Contribution of the variant p.V444A of ABCB11 (BSEP) to intrahepatic cholestasis of pregnancy
    Dixon, Peter
    Chambers, Jennifer
    Strautnieks, Sandra
    Thompson, Richard J.
    Lammert, Frank
    Kubitz, Ralf
    Glantz, Anna G.
    Mattsson, Lars-Ake
    Moore, Gudrun E.
    Williamson, Catherine
    HEPATOLOGY, 2007, 46 (04) : 265A - 265A
  • [10] Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma
    Scheimann, A. O.
    Strautnieks, S. S.
    Knisely, A. S.
    Byrne, J. A.
    Thompson, R. J.
    Finegold, M. J.
    JOURNAL OF PEDIATRICS, 2007, 150 (05): : 556 - 559