Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder

被引:0
|
作者
Brunet, T. [1 ,2 ]
Radivojkov-Blagojevic, M. [2 ]
Lichtner, P. [2 ]
Kraus, V. [3 ]
Meitinger, T. [1 ,2 ]
Wagner, M. [1 ,2 ,4 ]
机构
[1] Tech Univ Munich, Inst Human Genet, Munich, Germany
[2] Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany
[3] Tech Univ Munich, Klinikum Rechts Isar, Munchen Klin Schwabing & Harlaching, Klin Kinder & Jugendmed,Dept Pediat, Munich, Germany
[4] Helmholtz Zentrum Munchen, Inst Neurogen, Neuherberg, 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
P08.097.A
引用
收藏
页码:358 / 359
页数:2
相关论文
共 50 条
  • [41] RBL2/Rbf loss-of-function disrupts neurodevelopment in humans and flies and reveals a key role for an Rb proteins in post-mitotic neurons
    Aughey, Gabriel
    Cali, Elisa
    Houlden, Henry
    Maroofian, Reza
    Jepson, James
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1509 - 1510
  • [42] De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
    Reijnders, Margot R. F.
    Miller, Kerry A.
    Alvi, Mohsan
    Goos, Jacqueline A. C.
    Lees, Melissa M.
    de Burca, Anna
    Henderson, Alex
    Kraus, Alison
    Mikat, Barbara
    de Vries, Bert B. A.
    Isidor, Bertrand
    Kerr, Bronwyn
    Marcelis, Carlo
    Schluth-Bolard, Caroline
    Deshpande, Charu
    Ruivenkamp, Claudia A. L.
    Wieczorek, Dagmar
    Baralle, Diana
    Blair, Edward M.
    Engels, Hartmut
    Luedecke, Hermann-Josef
    Eason, Jacqueline
    Santen, Gijs W. E.
    Clayton-Smith, Jill
    Chandler, Kate
    Tatton-Brown, Katrina
    Payne, Katelyn
    Helbig, Katherine
    Radtke, Kelly
    Nugent, Kimberly M.
    Cremer, Kirsten
    Strom, Tim M.
    Bird, Lynne M.
    Sinnema, Margje
    Bitner-Glindzicz, Maria
    van Dooren, Marieke F.
    Alders, Marielle
    Koopmans, Marije
    Brick, Lauren
    Kozenko, Mariya
    Harline, Megan L.
    Klaassens, Merel
    Steinraths, Michelle
    Cooper, Nicola S.
    Edery, Patrick
    Yap, Patrick
    Terhal, Paulien A.
    van der Spek, Peter J.
    Lakeman, Phillis
    Taylor, Rachel L.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2018, 102 (06) : 1195 - 1203
  • [43] Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants
    Rosati, Justin
    Johnson, Jessica
    Stander, Zinandre
    White, Amy
    Tortorelli, Silvia
    Bailey, Diana
    Fong, Chin-To
    Lee, Bo Hoon
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191 (03) : 842 - 845
  • [44] Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants
    Sewani, Soha
    Azamian, Mahshid S.
    Mendelsohn, Bryce A.
    Mau-Them, Frederic Tran
    Reda, Manon
    Nambot, Sophie
    Isidor, Bertrand
    van der Smagt, Jasper J.
    Shen, Joseph J.
    Shillington, Amelle
    White, Lori
    Elloumi, Houda Zghal
    Baker II, Peter R.
    Svihovec, Shayna
    Brown, Kathleen
    Koopman-Keemink, Yvonne
    Hoffer, Mariette J. V.
    Lakeman, Inge M. M.
    Brischoux-Boucher, Elise
    Kinali, Maria
    Zhao, Xiaonan
    Lalani, Seema R.
    Scott, Daryl A.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (03)
  • [45] Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants
    Mohammadi, Nazanin Azarinejad
    Ahring, Philip Kiaer
    Liao, Vivian Wan Yu
    Chua, Han Chow
    Rosa, Sebastian Ortiz de la
    Johannesen, Katrine Marie
    Michaeli-Yossef, Yael
    Vincent-Devulder, Aline
    Meridda, Catherine
    Bruel, Ange-Line
    Rossi, Alessandra
    Patel, Chirag
    Klepper, Joerg
    Bonanni, Paolo
    Minghetti, Sara
    Trivisano, Marina
    Specchio, Nicola
    Amor, David
    Auvin, Stephane
    Baer, Sarah
    Meyer, Pierre
    Milh, Mathieu
    Salpietro, Vincenzo
    Maroo, Reza
    Lemke, Johannes R.
    Weckhuysen, Sarah
    Christophersen, Palle
    Rubboli, Guido
    Chebib, Mary
    Jensen, Anders A.
    Absalom, Nathan L.
    Moller, Rikke Steensbjerre
    EBIOMEDICINE, 2024, 106
  • [46] A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35
    Aguila, Adriana
    Salah, Somaya
    Kulasekaran, Gopinath
    Shweiki, Moatasem
    Shaul-Lotan, Nava
    Mor-Shaked, Hagar
    Daana, Muhannad
    Harel, Tamar
    Mcpherson, Peter S.
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2024, 300 (04)
  • [47] Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63
    Pacheco, Nadja Pekkola
    Pettersson, Maria
    Lindstrand, Anna
    Grigelioniene, Giedre
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191 (07) : 1929 - 1934
  • [48] Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis
    Al-Shamsi, Bushra
    Al-Kasbi, Ghalia
    Al-Kindi, Adila
    Bruwer, Zandre
    Al-Kharusi, Khalsa
    Al-Maawali, Almundher
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2022, 65 (01)
  • [49] Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy
    Abbasi-Moheb, Lia
    Westenberger, Ana
    Alotaibi, Maha
    Alghamdi, Malak Ali
    Hertecant, Jozef L.
    Ariamand, Amir
    Beetz, Christian
    Rolfs, Arndt
    Bertoli-Avella, Aida M.
    Bauer, Peter
    CLINICAL GENETICS, 2021, 99 (04) : 513 - 518
  • [50] Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy
    Ashfaque Ahmed
    Meng Wang
    Gaber Bergant
    Reza Maroofian
    Rongjuan Zhao
    Majid Alfadhel
    Marwan Nashabat
    Muhammad Talal AlRifai
    Wafaa Eyaid
    Abdulrahman Alswaid
    Christian Beetz
    Yan Qin
    Tengfei Zhu
    Qi Tian
    Lu Xia
    Huidan Wu
    Lu Shen
    Shanshan Dong
    Xinyi Yang
    Cenying Liu
    Linya Ma
    Qiumeng Zhang
    Rizwan Khan
    Abid Ali Shah
    Jifeng Guo
    Beisha Tang
    Lea Leonardis
    Karin Writzl
    Borut Peterlin
    Hui Guo
    Sajid Malik
    Kun Xia
    Zhengmao Hu
    Human Genetics, 2021, 140 : 579 - 592