Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features

被引：0
|
作者：
Awwad, Johnny [1 ]
Yammine, Tony [2 ]
Hamdar, Layal [1 ]
Souaid, Mirna [2 ]
Farra, Chantal [2 ,3 ,4 ]
机构：
[1] Amer Univ Beirut, ObGyn Dept, Fertil Unit, Med Ctr, Beirut, Lebanon
[2] St Joseph Univ, Genet Dept, Med Genet Unit, Beirut, Lebanon
[3] Hotel Dieu de France Univ Hosp, Med Genet Dept, Beirut, Lebanon
[4] St Joseph Univ Beirut, Genet Dept, Med Genet Unit, BP17 5208 Mar Mikhael, Beirut 11042020, Lebanon
来源：
CLINICAL DYSMORPHOLOGY | 2023年 / 32卷 / 02期
关键词：
D O I：
10.1097/MCD.0000000000000447
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：80 / 83
页数：4
相关论文
共 50 条
  • [21] Case Report: Novel JAG1 gene mutations in two infants with alagille syndrome characterized by cholestasis
    Han, Yijiang
    Zhu, Kun
    Wu, Hao
    Chen, Baohai
    Hu, Shuqi
    Lai, Dengming
    Tou, Jinfa
    FRONTIERS IN PEDIATRICS, 2022, 10
  • [22] VASCULAR ABNORMALITIES AS PREDOMINANT FEATURE IN ALAGILLE SYNDROME PATIENTS WITH A NOVEL MUTATION IN JAG1 GENE.
    Santamaria, R.
    Lopez-Aguilera, J.
    Gonzalez De Caldas, R.
    Sanchez-Frias, M.
    Garcia-Rios, A.
    Buendia, P.
    Aljama, P.
    JOURNAL OF HYPERTENSION, 2016, 34 : E180 - E180
  • [23] TSC1 Variant Associated With Mild or Absent Clinical Features of Tuberous Sclerosis Complex in a Three-Generation Family
    Streff, Haley
    Posey, Jennifer E.
    Mauer, Caitlin B.
    Krempely, Kate
    Potocki, Lorraine
    Northrup, Hope
    PEDIATRIC NEUROLOGY, 2020, 110 : 89 - 91
  • [24] Endothelial deletion of murine Jag1 leads to valve calcification and congenital heart defects associated with Alagille syndrome
    Hofmann, Jennifer J.
    Briot, Anais
    Enciso, Josephine
    Zovein, Ann C.
    Ren, Shuxun
    Zhang, Zhen W.
    Radtke, Freddy
    Simons, Michael
    Wang, Yibin
    Iruela-Arispe, M. Luisa
    DEVELOPMENT, 2012, 139 (23): : 4449 - 4460
  • [25] A novel JAG1 mutation causing Alagille syndrome presenting with giant hepatic nodules and discordant phenotype in monozygotic twins
    Zhang, Yi
    Xiang, Bo
    Yu, Xijie
    MEDICINA CLINICA, 2020, 155 (11): : 507 - 509
  • [26] Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic
    Prochazkova, Dagmar
    Borska, Romana
    Fajkusova, Lenka
    Konecna, Petra
    Hlouskova, Eliska
    Pavlovsky, Zdenek
    Slaby, Ondrej
    Pospisilova, Sarka
    DIAGNOSTICS, 2021, 11 (06)
  • [27] Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene
    Stankiewicz, P
    Rujner, J
    Löffler, C
    Krüger, A
    Nimmakayalu, M
    Pilacik, B
    Krajewska-Walasek, M
    Gutkowska, A
    Hansmann, I
    Giannakudis, I
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 103 (02): : 166 - 171
  • [28] JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome
    Guegan, K.
    Stals, K.
    Day, M.
    Turnpenny, P.
    Ellard, S.
    CLINICAL GENETICS, 2012, 82 (01) : 33 - 40
  • [29] Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification
    Gilbert, Melissa A.
    Bauer, Robert C.
    Rajagopalari, Ramakrishnan
    Grochowski, Christopher M.
    Chao, Grace
    McEldrew, Deborah
    Nassur, James A.
    Rand, Elizabeth B.
    Krock, Bryan L.
    Kamath, Binita M.
    Krantz, Ian D.
    Piccoli, David A.
    Loomes, Kathleen M.
    Spinner, Nancy B.
    HUMAN MUTATION, 2019, 40 (12) : 2197 - 2220
  • [30] DHPLC Mutation Analysis of Jagged1 (JAG1) Reveals Six Novel Mutations in Australian Alagille Syndrome Patients
    Heritage, Mandy L.
    MacMillan, John C.
    Anderson, Gregory J.
    HUMAN MUTATION, 2002, 20 (06) : 481
12345