Making sense of non-sense: Identification of an intronic deletion in ARID1A in Coffin-Siris syndrome

被引：0
|
作者：
Schuhmann, Sarah [1 ]
Vasileiou, Georgia [1 ,2 ]
Uebe, Steffen [1 ]
Fink, Andreas [1 ]
Wiesener, Antje [1 ]
Reis, Andre [1 ,2 ]
机构：
[1] Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany
[2] Friedrich Alexander Univ Erlangen Nurnberg, Ctr Rare Dis Erlangen, Erlangen, Germany
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：
P10.037.D
引用
收藏
页码：1449 / 1449
页数：1
相关论文
共 50 条
  • [31] Malignant Rhabdoid Tumour in an Adolescent with Coffin-Siris Syndrome and a Germline ARID1B Mutation: A Case Report and Review of the Literature
    Calley, J.
    Brown, P. A. J.
    Morgan, D.
    Bishop, H.
    PEDIATRIC BLOOD & CANCER, 2018, 65 : S382 - S382
  • [32] A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome
    Sofronova, Viktoriia
    Fukushima, Yu
    Masuno, Mitsuo
    Naka, Mami
    Nagata, Miho
    Ishihara, Yasuki
    Miyashita, Yohei
    Asano, Yoshihiro
    Moriwaki, Takahito
    Iwata, Rina
    Terawaki, Seigo
    Yamanouchi, Yasuko
    Otomo, Takanobu
    HUMAN GENOME VARIATION, 2022, 9 (01)
  • [33] Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome
    Aguilera, Cinthia
    Gabau, Elisabeth
    Laurie, Steve
    Baena, Neus
    Derdak, Sophia
    Capdevila, Nuria
    Ramirez, Ariadna
    Delgadillo, Veronica
    Jesus Garcia-Catalan, Maria
    Brun, Carme
    Guitart, Miriam
    Ruiz, Anna
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (01):
  • [34] A novel non-sense variant in the OFD1 gene caused Joubert syndrome
    Li, Chen
    Wang, Xingwang
    Li, Fake
    Ding, Hongke
    Liu, Ling
    Xiong, Ying
    Yang, Chaoxiang
    Zhang, Yan
    Wu, Jing
    Yin, Aihua
    FRONTIERS IN GENETICS, 2023, 13
  • [35] Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin-Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing
    Lu, Guanting
    Peng, Qiongling
    Wu, Lianying
    Zhang, Jian
    Ma, Liya
    BMC MEDICAL GENOMICS, 2021, 14 (01)
  • [36] Coffin-Siris Syndrome in a Patient with Hirschsprung's Disease-Expanding the Phenotype by Mutation ARID1B: Case Report and Literature Review
    Freitas, Leonardo F.
    Ribeiro, Lays S.
    Duarte, Marcio L.
    da Silva, Mayara O.
    Ferreira, Paula M.
    JOURNAL OF PEDIATRIC NEUROLOGY, 2023, 21 (05) : 384 - 387
  • [37] CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome
    Boerstler, Tom
    Wend, Holger
    Krumbiegel, Mandy
    Kavyanifar, Atria
    Reis, Andre
    Lie, Dieter Chichung
    Winner, Beate
    Turan, Soeren
    STEM CELL RESEARCH, 2020, 47
  • [38] The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019)
    van der Sluijs, Pleuntje J.
    Jansen, Sandra
    Vergano, Samantha A.
    Adachi-Fukuda, Miho
    Alanay, Yasemin
    AlKindy, Adila
    Baban, Anwar
    Bayat, Allan
    Beck-Woedl, Stefanie
    Berry, Katherine
    Bijlsma, Emilia K.
    Bok, Levinus A.
    Brouwer, Alwin F. J.
    van der Burgt, Ineke
    Campeau, Philippe M.
    Canham, Natalie
    Chrzanowska, Krystyna
    Chu, Yoyo W. Y.
    Chung, Brain H. Y.
    Dahan, Karin
    De Rademaeker, Marjan
    Destree, Anne
    Dudding-Byth, Tracy
    Earl, Rachel
    Elcioglu, Nursel
    Elias, Ellen R.
    Fagerberg, Christina
    Gardham, Alice
    Gener, Blanca
    Gerkes, Erica H.
    Grasshoff, Ute
    van Haeringen, Arie
    Heitink, Karin R.
    Herkert, Johanna C.
    den Hollander, Nicolette S.
    Horn, Denise
    Hunt, David
    Kant, Sarina G.
    Kato, Mitsuhiro
    Kayserili, Hulya
    Kersseboom, Rogier
    Kilic, Esra
    Krajewska-Walasek, Malgorzata
    Lammers, Kylin
    Laulund, Lone W.
    Lederer, Damien
    Lees, Melissa
    Lopez-Gonzalez, Vanesa
    Maas, Saskia
    Mancini, Grazia M. S.
    GENETICS IN MEDICINE, 2019, 21 (09) : 2160 - 2161
  • [39] 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)
  • [40] Answer to Letter to the Editor regarding the article "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 (10)
12345