Aberrant KCNQ1 splicing as an emerging mechanism underlying the pathogenesis of familial Beckwith-Wiedemann syndrome with reduced penetrance

被引：0

作者：

Thompson, Laura ^{[1
]}

Thoreson, Emily ^{[1
]}

Groepper, Daniel ^{[2
]}

Train, Laura ^{[1
]}

Meyer, Melanie ^{[1
]}

Glessner, Heather ^{[3
]}

Fleischer, Julie ^{[2
]}

Hasadsri, Linda ^{[1
]}

Baudhuin, Linnea ^{[1
]}

机构：

[1] Mayo Clin, Div Lab Genet & Genom, Dept Lab Med & Pathol, Rochester, MN USA

[2] Southern Illinois Univ, Dept Pediat, Sch Med, Springfield, IL USA

[3] Everly Hlth, Genet Serv, Austin, TX USA

来源：

GENETICS IN MEDICINE | 2022年 / 24卷 / 03期

关键词：

D O I：

10.1016/j.gim.2022.01.442

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

eP407

引用

页码：S256 / S256

页数：1

共 31 条

[1] Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome
Essinger, Carla
Karch, Stephanie
Moog, Ute
Fekete, Gyorgy
Lengyel, Anna
Pinti, Eva
Eggermann, Thomas
Begemann, Matthias
CLINICAL EPIGENETICS, 2020, 12 (01)
[2] Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome
Carla Eßinger
Stephanie Karch
Ute Moog
György Fekete
Anna Lengyel
Eva Pinti
Thomas Eggermann
Matthias Begemann
Clinical Epigenetics, 2020, 12
[3] Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus
Valente, Federica Maria
Sparago, Angela
Freschi, Andrea
Hill-Harfe, Katherine
Maas, Saskia M.
Frints, Suzanna Gerarda Maria
Alders, Marielle
Pignata, Laura
Franzese, Monica
Angelini, Claudia
Carli, Diana
Mussa, Alessandro
Gazzin, Andrea
Gabbarini, Fulvio
Acurzio, Basilia
Ferrero, Giovanni Battista
Bliek, Jet
Williams, Charles A.
Riccio, Andrea
Cerrato, Flavia
GENETICS IN MEDICINE, 2019, 21 (08) : 1808 - 1820
[4] Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR
Urakawa, Tatsuki
Ozawa, Junichi
Tanaka, Masato
Narusawa, Hiromune
Matsuoka, Kentaro
Fukami, Maki
Nagasaki, Keisuke
Kagami, Masayo
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2023, 66 (01)
[5] Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome
Niemitz, EL
DeBaun, MR
Fallon, J
Murakami, K
Kugoh, H
Oshimura, M
Feinberg, AP
AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 75 (05) : 844 - 849
[6] Partial KCNQ1OT1 hypomethylation: A disguised familial Beckwith-Wiedemann syndrome as a sporadic adrenocortical tumor
Ben-Brahim, Dorra H'mida
Hammami, Sabeur
Mastouri, Marwa Haddaji
Trabelsi, Saoussen
Chourabi, Maroua
Sassi, Sihem
Mougou, Soumaya
Gribaa, Moez
Zakhama, Abdelfattah
Guediche, Mohamed Neji
Saad, Ali
APPLIED AND TRANSLATIONAL GENOMICS, 2015, 4 : 1 - 3
[7] The 5′ end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome
Flavia Cerrato
Maria Vernucci
Paolo V. Pedone
Lorenzo Chiariotti
Gianfranco Sebastio
Carmelo B. Bruni
Andrea Riccio
Human Genetics, 2002, 111 : 105 - 107
[8] The 5′ end of the KCNQ10T1 gene is hypomethylated in the Beckwith-Wiedemann syndrome
Cerrato, F
Vernucci, M
Pedone, PV
Chiariotti, L
Sebastio, G
Bruni, CB
Riccio, A
HUMAN GENETICS, 2002, 111 (01) : 105 - 107
[9] Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene
Kaltenbach, S.
Capri, Y.
Rossignol, S.
Denjoy, I.
Soudee, S.
Aboura, A.
Baumann, C.
Verloes, A.
CLINICAL GENETICS, 2013, 84 (01) : 78 - 81
[10] Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome
Weksberg, R
Shuman, C
Caluseriu, O
Smith, AC
Fei, YL
Nishikawa, J
Stockley, TL
Best, L
Chitayat, D
Olney, A
Ives, E
Schneider, A
Bestor, TH
Li, M
Sadowski, P
Squire, J
HUMAN MOLECULAR GENETICS, 2002, 11 (11) : 1317 - 1325

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