A novel JAG1 mutation causing Alagille syndrome presenting with giant hepatic nodules and discordant phenotype in monozygotic twins

被引:1
|
作者
Zhang, Yi [1 ,2 ]
Xiang, Bo [3 ]
Yu, Xijie [1 ,2 ]
机构
[1] Sichuan Univ, West China Hosp, Dept Endocrinol & Metab, Lab Endocrinol & Metab, Chengdu 610041, Peoples R China
[2] Sichuan Univ, West China Hosp, Natl Clin Res Ctr Geriatr, Chengdu 610041, Peoples R China
[3] Sichuan Univ, West China Hosp, Dept Pediat Surg, Chengdu 610041, Peoples R China
来源
MEDICINA CLINICA | 2020年 / 155卷 / 11期
基金
中国国家自然科学基金;
关键词
D O I
10.1016/j.medcli.2019.06.009
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:507 / 509
页数:3
相关论文
共 50 条
  • [41] Establishment of a human induced pluripotent stem cell line (SDQLCHi037-A) from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene
    Wang, Bin
    Yang, Lu
    Li, Yue
    Gao, Min
    Zhang, Haiyan
    Yang, Xiaomeng
    Guan, Jingyun
    Liu, Yi
    Gai, Zhongtao
    STEM CELL RESEARCH, 2021, 51
  • [42] How mosaic level influence the phenotype - lesson form a family study of monozygotic twins discordant for metachondromatosis due to a novel postzygotic PTPN11 mutation
    Rydzanicz, Malgorzata
    Glinkowski, Wojciech
    Walczak, Anna
    Koppolu, Agnieszka
    Kostrzewa, Grazyna
    Gasperowicz, Piotr
    Pollak, Agnieszka
    Stawinski, Piotr
    Ploski, Rafal
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 406 - 406
  • [43] Exome Sequencing Reveals Compound Heterozygous Mutations in ATP8B1 in a JAG1/NOTCH2 Mutation-Negative Patient with Clinically Diagnosed Alagille Syndrome
    Grochowski, Christopher M.
    Rajagopalan, Ramakrishnan
    Falsey, Alexandra M.
    Loomes, Kathleen M.
    Piccoli, David A.
    Krantz, Ian D.
    Devoto, Marcella
    Spinner, Nancy B.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (04) : 891 - 893
  • [44] NEUROPSYCHOLOGICAL AND PSYCHOSOCIAL EFFECTS OF THE FMR-1 FULL MUTATION - CASE-REPORT OF MONOZYGOTIC TWINS DISCORDANT FOR THE FRAGILE-X SYNDROME
    MAZZOCCO, MMM
    FREUND, LS
    BAUMGARDNER, TL
    FORMAN, L
    REISS, AL
    NEUROPSYCHOLOGY, 1995, 9 (04) : 470 - 480
  • [45] Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation
    Quaio, C. R.
    Koda, Y. K.
    Bertola, D. R.
    Sukalo, M.
    Zenker, M.
    Kim, C. A.
    GENETICS AND MOLECULAR RESEARCH, 2014, 13 (02) : 4159 - 4164
  • [46] Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene
    Hatim, Omer
    Xu, Miao
    Pavlinov, Ivan
    Linask, Kaari
    Beers, Jeanette
    Zou, Jizhong
    Liu, Chengyu
    Rodems, Steven
    Baumgartel, Karsten
    Gilbert, Melissa A.
    Spinner, Nancy B.
    Chen, Catherine
    Zheng, Wei
    STEM CELL RESEARCH, 2024, 77
  • [47] Generation of an Alagille syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi032-A) carrying a heterozygous mutation (p.Cys682Leufs*7) in the JAG1 gene
    Hatim, Omer
    Pavlinov, Ivan
    Xu, Miao
    Linask, Kaari
    Beers, Jeanette
    Liu, Chengyu
    Baumgartel, Karsten
    Gilbert, Melissa
    Spinner, Nancy
    Chen, Catherine
    Zou, Jizhong
    Zheng, Wei
    STEM CELL RESEARCH, 2023, 73
  • [48] NOVEL MUTATION IN THE WT1 GENE CAUSING CONGENITAL NEPHROTIC SYNDROME PRESENTING AS LIFE-THREATENING HEART FAILURE
    Day, C.
    Evans, M.
    Self, S.
    Robinson, J. C.
    Allen, R. K.
    Sas, D. J.
    Shatat, I. F.
    JOURNAL OF INVESTIGATIVE MEDICINE, 2013, 61 (02) : 420 - 420
  • [49] Long-term follow-up and novel genotype -phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2
    Pavone, Piero
    Pappalardo, Xena Giada
    Incorpora, Gemma
    Falsaperla, Raffaele
    Marino, Simona Domenica
    Corsello, Giovanni
    Parano, Enrico
    Ruggieri, Martino
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (08)
  • [50] A novel germline mutation at exon 10 of MEN1 gene: a clinical survey and positive genotype-phenotype analysis of a MEN1 Italian family, including monozygotic twins
    Andrea Palermo
    Ettore Capoluongo
    Rossella Del Toro
    Silvia Manfrini
    Paolo Pozzilli
    Daria Maggi
    Giuseppe Defeudis
    Francesco Pantano
    Roberto Coppola
    Francesco Maria Di Matteo
    Marco Raffaelli
    Paola Concolino
    Alberto Falchetti
    Hormones, 2018, 17 : 427 - 435