Clinical spectrum of four patients with Coffin-Siris syndrome and novel mutations in ARID1B gene

被引:0
|
作者
Soares, G. [1 ]
Tkachenko, N. [1 ]
Fortuna, A. [1 ]
Santen, G. W. E. [2 ]
Pinto-Basto, J. [3 ]
Dias, C. [4 ]
机构
[1] Ctr Hosp Porto, Ctr Genet Med Jacinto Magahaes, Porto, Portugal
[2] Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands
[3] CGC Genet, Lab Diagnost Mol & Genom Clin, Porto, Portugal
[4] Francis Crick Inst, London, England
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
P08.12D
引用
收藏
页码:330 / 331
页数:2
相关论文
共 50 条
  • [1] Three Novel ARID1B Variations in Coffin-Siris Syndrome Patients
    Tan, Yuxia
    Chen, Jun
    Li, Yutang
    Liu, Yedan
    Wang, Yu
    Xia, Shungang
    Chen, Liping
    Wei, Wei
    Chen, Zongbo
    [J]. NEUROLOGY INDIA, 2022, 70 (05) : 2174 - 2179
  • [2] ARID1B gene mutation in a patient with Coffin-Siris syndrome and Autism Spectrum Disorder
    Gulcu, Nur Seda
    Karayagmurlu, Ali
    [J]. DUSUNEN ADAM-JOURNAL OF PSYCHIATRY AND NEUROLOGICAL SCIENCES, 2019, 32 (04): : 355 - 358
  • [3] A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B
    Park, Hyojung
    Kim, Min-Sun
    Kim, Jiyeon
    Jang, Ja-Hyun
    Choi, Jong-Moon
    Lee, Sae-Mi
    Cho, Sung Yoon
    Jin, Dong-Kyu
    [J]. NEUROENDOCRINOLOGY LETTERS, 2020, 41 (06) : 285 - 289
  • [4] The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
    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.
    [J]. GENETICS IN MEDICINE, 2019, 21 (06) : 1295 - 1307
  • [5] Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
    Santen, Gijs W. E.
    Aten, Emmelien
    Sun, Yu
    Almomani, Rowida
    Gilissen, Christian
    Nielsen, Maartje
    Kant, Sarina G.
    Snoeck, Irina N.
    Peeters, Els A. J.
    Hilhorst-Hofstee, Yvonne
    Wessels, Marja W.
    den Hollander, Nicolette S.
    Ruivenkamp, Claudia A. L.
    van Ommen, Gert-Jan B.
    Breuning, Martijn H.
    den Dunnen, Johan T.
    van Haeringen, Arie
    Kriek, Marjolein
    [J]. NATURE GENETICS, 2012, 44 (04) : 379 - 380
  • [6] Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
    Gijs W E Santen
    Emmelien Aten
    Yu Sun
    Rowida Almomani
    Christian Gilissen
    Maartje Nielsen
    Sarina G Kant
    Irina N Snoeck
    Els A J Peeters
    Yvonne Hilhorst-Hofstee
    Marja W Wessels
    Nicolette S den Hollander
    Claudia A L Ruivenkamp
    Gert-Jan B van Ommen
    Martijn H Breuning
    Johan T den Dunnen
    Arie van Haeringen
    Marjolein Kriek
    [J]. Nature Genetics, 2012, 44 : 379 - 380
  • [7] First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B Mutation
    Lee, Bo Lyun
    Oh, Seung Hwan
    Jun, Kyung Ran
    Hur, Yun Jung
    Lee, Jeong Eun
    Keum, Changwon
    Chung, Woo Yeong
    [J]. ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2020, 50 (01): : 140 - 145
  • [8] The ARID1B spectrum: From non-syndromic intellectual disability to Coffin-Siris syndrome
    van der Sluijs, E. P. J.
    Clayton-Smith, J.
    Santen, G. W. E.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 830 - 830
  • [9] Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene
    Vals, Mari-Anne
    Oiglane-Shlik, Eve
    Noukas, Margit
    Shor, Riina
    Peet, Aleksandr
    Kals, Mart
    Kivistik, Paula Ann
    Metspalu, Andres
    Ounap, Katrin
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (11) : 1327 - 1329
  • [10] A novel pathogenic mutation in ARID1B gene in a child with syndromic diabetes mellitus - presentation of Coffin-Siris syndrome
    Belemezova, Kalina
    Baltova, Ivamina
    Bashchobanov, Dzhaner
    Archinkova, Margarita
    Savova, Radka
    Dimova, Ivanka
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 182 - 182