A de novo ATXN2L variant in a child with developmental delay and macrocephaly

被引：2
|
作者：
Alzahrani, Fatema [1 ]
Albatti, Turki H. [2 ]
Alkuraya, Fowzan S. [1 ,3 ]
机构：
[1] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh, Saudi Arabia
[2] Abdullatif Al Fozan Ctr Autism, Al Khobar, Saudi Arabia
[3] Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2021年 / 185卷 / 03期
关键词：
ATAXIN-2;
D O I：
10.1002/ajmg.a.62007
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：949 / 951
页数：3
相关论文
共 50 条
  • [1] The second described case of a de novo ATXN2L missense variant in a child with global developmental delay
    Ledig, Susanne
    Tewes, Ann-Christin
    Tuttelmann, Frank
    Schwartz, Oliver
    Horvath, Judit
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1064 - 1064
  • [2] A De Novo Missense Variant in POU3F2 Identified in a Child with Global Developmental Delay
    Westphal, Dominik Sebastian
    Riedhammer, Korbinian Maria
    Kovacs-Nagy, Reka
    Meitinger, Thomas
    Hoefele, Julia
    Wagner, Matias
    NEUROPEDIATRICS, 2018, 49 (06) : 401 - 404
  • [3] De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features
    Harel, Tamar
    Spicher, Camille
    Scheer, Elisabeth
    Buchan, Jillian G.
    Cech, Jennifer
    Folland, Chiara
    Frey, Tanja
    Holtz, Alexander M.
    Innes, A. Micheil
    Keren, Boris
    Macken, William L.
    Marcelis, Carlo
    Otten, Catherine E.
    Paolucci, Sarah A.
    Petit, Florence
    Pfundt, Rolph
    Pitceathly, Robert D. S.
    Rauch, Anita
    Ravenscroft, Gianina
    Sanchev, Rani
    Steindl, Katharina
    Tammer, Femke
    Tyndall, Amanda
    Devys, Didier
    Vincent, Stephane D.
    Elpeleg, Orly
    Tora, Laszlo
    BRAIN, 2024, 147 (08) : 2732 - 2744
  • [4] A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria
    Thulasirajah, Salini
    Wang, Xueqi
    Sell, Erick
    Davila, Jorge
    Dyment, David A.
    Kernohan, Kristin D.
    GENES, 2023, 14 (01)
  • [5] A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly
    Rogers, Alice P.
    Friend, Kathryn
    Rawlings, Lesley
    Barnett, Christopher P.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185 (08) : 2586 - 2592
  • [6] Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay
    Wayhelova, Marketa
    Oppelt, Jan
    Smetana, Jan
    Hladilkova, Eva
    Filkova, Hana
    Makaturova, Eva
    Nikolova, Petra
    Beharka, Rastislav
    Gaillyova, Renata
    Kuglik, Petr
    MOLECULAR MEDICINE REPORTS, 2019, 20 (01) : 505 - 512
  • [7] A de novo marker chromosome 15 in a child with isolated developmental delay
    Madhavan Jeevan Kumar
    Kalpana Gowrishankar
    Venkatasubramanian Hemagowri
    Jayarama Kadandale
    Journal of Genetics, 2020, 99
  • [8] PRMT1-mediated arginine methylation controls ATXN2L localization
    Kaehler, Christian
    Guenther, Anika
    Uhlich, Anja
    Krobitsch, Sylvia
    EXPERIMENTAL CELL RESEARCH, 2015, 334 (01) : 114 - 125
  • [9] Processing body protein ATXN2L maintains progenitor properties of CML cells
    Kojima, Katsuhiko
    Amano, Yuji
    Tanaka, Nobuyuki
    Takeshita, Toshikazu
    CANCER SCIENCE, 2018, 109 : 455 - 455
  • [10] A Novel De Novo TUBB3 Variant Causing Developmental Delay, Epilepsy and Mild Ophthalmological Symptoms in a Chinese Child
    Xue, Jiao
    Song, Zhenfeng
    Ma, Shuyin
    Yi, Zhi
    Yang, Chengqing
    Li, Fei
    Liu, Kaixuan
    Zhang, Ying
    JOURNAL OF MOLECULAR NEUROSCIENCE, 2022, 72 (01) : 37 - 44
12345