Identification and functional characterization of a-47 intronic variant in KMT2D causing Kabuki syndrome

被引：0
|
作者：
Martinez-Gil, Nuria [1 ,2 ]
Campos, Berta [1 ,2 ]
Maria Cueto-Gonzalez, Anna [1 ]
Masas, Miriam [1 ]
Garcia-Arumi, Elena [1 ,2 ]
Tizzano, Eduardo [1 ,2 ]
机构：
[1] Hosp Univ Vall Hebron, Area Genet Clin & Mol AGCM, Barcelona, Spain
[2] Vall Hebron Inst Recerca VHIR, Grp Med Genet, Barcelona, Spain
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P12.039.D
引用
收藏
页码：538 / 538
页数：1
相关论文
共 50 条
  • [1] A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report
    Aristizabal, Erica
    Diaz-Ordonez, Lorena
    Candelo, Estephania
    Pachajoa, Harry
    APPLICATION OF CLINICAL GENETICS, 2021, 14 : 409 - 416
  • [2] Functional dissection of the impact of KMT2D germline mutations in Kabuki syndrome
    Gabriele, M.
    Germain, P. L.
    Vitriolo, A.
    Merla, G.
    Testa, G.
    HUMAN GENE THERAPY, 2016, 27 (11) : A77 - A77
  • [3] Growth Pattern in Kabuki Syndrome with a KMT2D Mutation
    Schott, Dina A.
    Blok, Marinus J.
    Gerver, Willem J. M.
    Devriendt, Koenraad
    Zimmermann, Luc J. I.
    Stumpel, Constance T. R. M.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (12) : 3172 - 3179
  • [4] IDENTIFICATION OF A DEFINING PERIPHERAL BLOOD DNA METHYLATION SIGNATURE OF KABUKI SYNDROME ENABLES KMT2D VARIANT CLASSIFICATION
    Schwartz, Charles E.
    Aref-Eshghi, Erfan
    Schenkel, Laila
    Lin, Hanxin
    Skinner, Cindy
    Ainsworth, Peter
    Pare, Guillaume
    Rodenhiser, David
    Sadikovic, Bekim
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (06) : 1469 - 1469
  • [5] Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations
    Kurahashi, Naoko
    Miyake, Noriko
    Mizuno, Seiji
    Koshimizu, Eriko
    Kurahashi, Hirokazu
    Yamada, Keitaro
    Natsume, Jun
    Aoki, Yusuke
    Nakamura, Miho
    Taniai, Hiroko
    Maki, Yuki
    Abe-Hatano, Chihiro
    Matsumoto, Naomichi
    Maruyama, Koichi
    BRAIN & DEVELOPMENT, 2017, 39 (08): : 672 - 677
  • [6] Two Novel KMT2D Gene Variants in Kabuki Syndrome
    Karaer, D. Kan
    Yuksel, Z.
    Karaer, K.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 993 - 993
  • [7] Dissecting KMT2D missense mutations in Kabuki syndrome patients
    Cocciadiferro, Dario
    Augello, Bartolomeo
    De Nittis, Pasquelena
    Zhang, Jiyuan
    Mandriani, Barbara
    Malerba, Natascia
    Squeo, Gabriella M.
    Romano, Alessandro
    Piccinni, Barbara
    Verri, Tiziano
    Micale, Lucia
    Pasqualucci, Laura
    Merla, Giuseppe
    HUMAN MOLECULAR GENETICS, 2018, 27 (21) : 3651 - 3668
  • [8] Immunologic assessment and KMT2D mutation detection in Kabuki syndrome
    Lin, J. -L.
    Lee, W. -I.
    Huang, J. -L.
    Chen, P. K. -T.
    Chan, K. -C.
    Lo, L. -J.
    You, Y. -J.
    Shih, Y. -F.
    Tseng, T. -Y.
    Wu, M. -C.
    CLINICAL GENETICS, 2015, 88 (03) : 255 - 260
  • [9] Genetic and behavioral characterization of a Kmt2d mouse mutant, a new model for Kabuki Syndrome
    Yamamoto, Pedro K.
    de Souza, Tiago A.
    Antiorio, Ana T. F. B.
    Zanatto, Dennis A.
    Garcia-Gomes, Mariana de Souza A.
    Alexandre-Ribeiro, Sandra R.
    Oliveira, Nicassia de Souza
    Menck, Carlos F. M.
    Bernardi, Maria M.
    Massironi, Silvia M. G.
    Mori, Claudia M. C.
    GENES BRAIN AND BEHAVIOR, 2019, 18 (08)
  • [10] Novel missense mutation of the KMT2D gene in a girl with Kabuki syndrome
    Riedel, S.
    Linne, M.
    Eichhorn, B.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 347 - 347
12345