Resolving pathogenicity of non-truncating ARID1B variants in Coffin-Siris syndrome

被引:0
|
作者
Bosch, Elisabeth [1 ]
Guese, Esther [1 ]
Kirchner, Philipp [1 ]
Hebebrand, Moritz [1 ]
Ekici, Arif B. [1 ]
Reis, Andre [1 ]
Vasileiou, Georgia [1 ]
机构
[1] Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Inst Human Genet, Erlangen, Germany
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
P09.040.D
引用
收藏
页码:467 / 468
页数:2
相关论文
共 50 条
  • [31] De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
    Huang, Xiaoyu
    Li, Huiping
    Yang, Shangying
    Ma, Meijiao
    Lian, Yuanyuan
    Wu, Xueli
    Qi, Xiaolong
    Wang, Xuhui
    Rong, Weining
    Sheng, Xunlun
    BMC MEDICAL GENOMICS, 2024, 17 (01)
  • [32] Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion
    Pascolini, Giulia
    Valiante, Michele
    Bottillo, Irene
    Laino, Luigi
    Fleischer, Nicole
    Ferraris, Alessandro
    Grammatico, Paola
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (03)
  • [33] A de novo ARID1A variant in a child with Coffin-Siris syndrome and hepatoblastoma
    Masotto, Barbara
    Carcamo, Benjamin
    Baquero Vaquer, Anna
    Ferrer Avargues, Rosario
    Moreno Saez, Yolanda
    Riva, Natali
    Andujar Pastor, Alfonso
    Felipe Ponce, Vanesa
    Mesa-Risquez, Elena
    Sanchez Guiu, Isabel
    Dolores Ruiz, Maria
    Martinez Rubio, Roser
    Casan, Clara
    Serrano Rodriguez, Nuria
    Arilla Codoner, Angela
    Rodriguez de Pablos, Raquel
    Menor Ferrandiz, Carlos
    Garcia Vuelta, Jaime
    Giros Perez, Amparo
    Sanchez Ibanez, Maria
    Romera Lopez, Alejandro
    Moya Aguilera, Christian Martin
    Martinez Granero, Francisco
    Ceballos, Delia
    Zapata Aldana, Eugenio
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 226 - 227
  • [34] Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4
    Mingjie Liu
    Linlin Wan
    Chunrong Wang
    Hongyu Yuan
    Yun Peng
    Na Wan
    Zhichao Tang
    Xinrong Yuan
    Daji Chen
    Zhe Long
    Yuting Shi
    Rong Qiu
    Beisha Tang
    Hong Jiang
    Zhao Chen
    Genes & Genomics, 2022, 44 : 1061 - 1070
  • [35] Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4
    Liu, Mingjie
    Wan, Linlin
    Wang, Chunrong
    Yuan, Hongyu
    Peng, Yun
    Wan, Na
    Tang, Zhichao
    Yuan, Xinrong
    Chen, Daji
    Long, Zhe
    Shi, Yuting
    Qiu, Rong
    Tang, Beisha
    Jiang, Hong
    Chen, Zhao
    GENES & GENOMICS, 2022, 44 (09) : 1061 - 1070
  • [36] ARID1B基因新发突变致Coffin-Siris综合征1例报告并文献复习
    陶佳琪
    陈颖
    中国儿童保健杂志, 2023, 31 (10) : 1156 - 1160
  • [37] Making sense of non-sense: Identification of an intronic deletion in ARID1A in Coffin-Siris syndrome
    Schuhmann, Sarah
    Vasileiou, Georgia
    Uebe, Steffen
    Fink, Andreas
    Wiesener, Antje
    Reis, Andre
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1449 - 1449
  • [38] Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome
    Mouskou, Stella
    Leka-Emiri, Sofia
    Korona, Anastasia
    Mastroyanni, Sotiria
    Manolakos, Emmanouil
    Papoulidis, Ioannis
    Sekouris, Nick
    Katerelos, Adamantios
    Katsarou-Pectasides, Efstathia
    Voudris, Konstantinos
    MOLECULAR SYNDROMOLOGY, 2022, 13 (05) : 425 - 432
  • [39] ARID1B基因导致Coffin-Siris综合征伴癫痫一例并文献复习
    韩清梅
    陶德双
    周静宜
    王菊莉
    癫痫杂志, 2022, 8 (01) : 90 - 93
  • [40] Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report
    Tao, Dong-Ying
    Niu, Huan-Hong
    Zhang, Jing-Jing
    Zhang, Hui-Qin
    Zeng, Ming-Hua
    Cheng, Sheng-Quan
    BMC PEDIATRICS, 2022, 22 (01)