Whole exome sequencing reveals two novel mutations in GREB1L in two chinese families with renal agenesis

被引：1
|
作者：
Xie, Feifei [1 ]
Zhou, Lin [1 ]
Luo, Peng [2 ]
Xi, Hui [1 ]
Yu, Wenxian [1 ]
Ma, Na [1 ]
Wang, Dan [1 ,3 ]
Peng, Ying [1 ,3 ]
机构：
[1] Hunan Prov Maternal & Child Hlth Care Hosp, Key Lab Birth Defects Res & Prevent, Natl Hlth Commiss, Changsha 410008, Hunan, Peoples R China
[2] Yongzhou Maternal & Child Hlth Care Hosp, Yongzhou 425199, Hunan, Peoples R China
[3] Hunan Prov Maternal & Child Hlth Care Hosp, Prenatal Diag Ctr, Key Lab Birth Defects Res & Prevent, Natl Hlth Commiss, Changsha 410008, Hunan, Peoples R China
来源：
QJM-AN INTERNATIONAL JOURNAL OF MEDICINE | 2024年 / 117卷 / 06期
关键词：
D O I：
10.1093/qjmed/hcae036
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
[No abstract available]
引用
收藏
页码：462 / 464
页数：3
相关论文
共 50 条
  • [1] Clinical Exome Sequencing Identifies a Novel Mutation of the GREB1L Gene in a Chinese Family with Renal Agenesis
    Wang, Ancong
    Ji, Baoju
    Wu, Fengxia
    Zhao, Xiangyu
    GENETIC TESTING AND MOLECULAR BIOMARKERS, 2020, 24 (08) : 520 - 526
  • [2] GREB1L and ROBO1 -Two novel genes associated with renal agenesis
    Rasmussen, M.
    Lildballe, D. L.
    Brophy, P. D.
    Parida, M.
    Bonde, G.
    Hong, X.
    Clarke, J. C.
    Schneider, M.
    Sussman, C. R.
    Sunde, L.
    Hertz, J. M.
    Ramsing, M.
    Petersen, A.
    Cornell, R. A.
    Manak, J. R.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 94 - 95
  • [3] Genomic Study of Severe Fetal Anomalies and Discovery of GREB1L Mutations in Renal Agenesis
    Boissel, Sarah
    Fallet-Bianco, Catherine
    Chitayat, David
    Kremer, Valerie
    Nassif, Christina
    Rypens, Francoise
    Delrue, Marie-Ange
    Soglio, Dorothee Dal
    Oligny, Luc L.
    Patey, Natalie
    Flori, Elisabeth
    Cloutier, Mireille
    Dyment, David
    Campeau, Philippe
    Karalis, Aspasia
    Nizard, Sonia
    Fraser, William D.
    Audibert, Francois
    Lemyre, Emmanuelle
    Rouleau, Guy A.
    Hamdan, Fadi F.
    Kibar, Zoha
    Michaud, Jacques L.
    OBSTETRICAL & GYNECOLOGICAL SURVEY, 2018, 73 (12) : 677 - 679
  • [4] Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
    Boissel, Sarah
    Fallet-Bianco, Catherine
    Chitayat, David
    Kremer, Valerie
    Nassif, Christina
    Rypens, Francoise
    Delrue, Marie-Ange
    Dal Soglio, Dorothee
    Oligny, Luc L.
    Patey, Natalie
    Flori, Elisabeth
    Cloutier, Mireille
    Dyment, David
    Campeau, Philippe
    Karalis, Aspasia
    Nizard, Sonia
    Fraser, William D.
    Audibert, Francois
    Lemyre, Emmanuelle
    Rouleau, Guy A.
    Hamdan, Fadi F.
    Kibar, Zoha
    Michaud, Jacques L.
    GENETICS IN MEDICINE, 2018, 20 (07) : 745 - 753
  • [5] Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice
    De Tomasi, Lara
    David, Pierre
    Humbert, Camille
    Silbermann, Flora
    Arrondel, Christelle
    Tores, Frederic
    Fouquet, Stephane
    Desgrange, Audrey
    Niel, Olivier
    Bole-Feysot, Christine
    Nitschke, Patrick
    Roume, Joelle
    Cordier, Marie-Pierre
    Pietrement, Christine
    Isidor, Bertrand
    Van Kien, Philippe Khau
    Gonzales, Marie
    Saint-Frison, Marie-Helene
    Martinovic, Jelena
    Novo, Robert
    Piard, Juliette
    Cabrol, Christelle
    Verma, Ishwar C.
    Puri, Ratna
    Journel, Hubert
    Aziza, Jacqueline
    Gavard, Laurent
    Said-Menthon, Marie-Helene
    Heidet, Laurence
    Saunier, Sophie
    Jeanpierre, Cecile
    AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 101 (05) : 803 - 814
  • [6] Identification of two novel mutations in three Chinese families with Kallmann syndrome using whole exome sequencing
    Zhang, Qin
    He, Hong-hui
    Janjua, Muhammad Usman
    Wang, Fang
    Yang, You-bo
    Mo, Zhao-hui
    Liu, Jun
    Jin, Ping
    ANDROLOGIA, 2020, 52 (07)
  • [7] Whole-Exome Sequencing Identifies Two Novel TTN Mutations in Chinese Families with Dilated Cardiomyopathy
    Liu, Ji-Shi
    Fan, Liang-Liang
    Zhang, Hao
    Liu, Xiaoxian
    Huang, Hao
    Li-JianTao
    Xia, Kun
    Xiang, Rong
    CARDIOLOGY, 2017, 136 (01) : 10 - 14
  • [8] Analysis of a Chinese Pedigree With Familial Chylomicronemia Syndrome Reveals Two Novel LPL Mutations by Whole-Exome Sequencing
    Liu, Ying
    Lan, Zhangzhang
    Zhao, Fang
    Zhang, Shuangchuan
    Zhang, Wenyong
    FRONTIERS IN GENETICS, 2020, 11
  • [9] Identification of Two Novel Mutations in PKHD1 Gene from Two Families with Polycystic Kidney Disease by Whole Exome Sequencing
    Heidari, Masoud
    Gharshasbi, Hamid
    Isazadeh, Alireza
    Soleyman-Nejad, Morteza
    Taskhiri, Mohammad Hossein
    Shapouri, Javad
    Bolhassani, Manzar
    Sadighi, Nahid
    Heidari, Mansour
    CURRENT GENOMICS, 2021, 22 (03) : 232 - 236
  • [10] Detection of DZIP1L mutations by whole exome sequencing in two consanguineous families with polycystic kidney disease
    Hertz, J. M.
    Svenningsen, P.
    Dimke, H.
    Engelund, M. B.
    Norgaard, H.
    Hansen, A.
    Marcussen, N.
    Thiesson, H. C.
    Jensen, B. L.
    Larsen, M. J.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1267 - 1267
12345