Novel biallelic ABCC9 loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

被引：0

作者：

Efthymiou, Stephanie ^{[1
]}

Scala, Marcello ^{[1
,2
,3
]}

Nagaraj, Vini ^{[4
,5
,6
]}

Ochenkowska, Katarzyna ^{[7
,8
]}

Komdeur, Fenne ^{[9
,10
]}

Liang, Robin ^{[11
]}

Abdelhamid, Mohamad ^{[12
]}

Sultan, Tipu ^{[13
]}

Baroy, Tuva ^{[14
]}

van Ghelue, Marijke ^{[11
]}

Vona, Barbara ^{[15
,16
,17
]}

Maroofian, Reza ^{[1
]}

Zafar, Faisal ^{[18
,19
]}

Alkuraya, Fowzan ^{[20
]}

Zaki, Maha ^{[21
]}

Severino, MariaSavina ^{[22
]}

Tryon, Robert ^{[23
,24
]}

Brauteset, Lin ^{[25
]}

Duru, Kingsley ^{[4
,5
,6
]}

Ansari, Morad ^{[26
]}

Hamilton, Mark ^{[27
]}

van Haelst, Mieke ^{[9
]}

van Haaften, Gijs ^{[28
]}

Zara, Federico ^{[3
]}

Houlden, Henry ^{[1
]}

Samarut, Eric ^{[7
,8
]}

Nichols, Colin ^{[23
,24
,25
]}

Smeland, Marie Falkenberg ^{[29
,30
]}

McClenaghan, Conor ^{[4
,5
,6
]}

机构：

[1] UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

[2] Univ Genoa, Dept Neurosci Rehab Ophtalmol Genet Maternal & Ch, Genoa, Italy

[3] IRCCS Inst Giannina Gaslini, UOC Genet Med, Genoa, Italy

[4] Rutgers State Univ, Ctr Adv Biotechnol & Med, New Brunswick, NJ USA

[5] Univ Med & Dent New Jersey, Dept Pharmacol, New Brunswick, NJ USA

[6] Univ Med & Dent New Jersey, Dept Med, New Brunswick, NJ USA

[7] Univ Montreal, Ctr Rech Ctr Hosp Univ Montreal, Montreal, PQ, Canada

[8] Dept Neurosci, Montreal, PQ, Canada

[9] Amsterdam Univ Med Ctr, Clin Genet Sect, Dept Human Genet, Amsterdam, Netherlands

[10] Amsterdam Reprod & Dev, Amsterdam, Netherlands

[11] Univ Hosp North Norway, Dept Med Genet, Tromso, Norway

[12] Human Genet & Genome Res Inst, Natl Res Ctr, Med Mol Genet Dept, Cairo, Egypt

[13] Univ Child Hlth Sci, Children Hosp, Dept Pediat Neurol, Lahore, Pakistan

[14] Oslo Univ Hosp, Dept Med Genet, Oslo, Norway

[15] Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, Germany

[16] Inst Auditory Neurosci, Gottingen, Germany

[17] InnerEar Iab, Gottingen, Germany

[18] Childrens Hosp, Dept Pediat neurol, Lahore, Punjab, Pakistan

[19] Inst Child Hlth, Lahore, Punjab, Pakistan

[20] King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Translat Genom, Riyadh, Saudi Arabia

[21] Natl Res Ctr, Human Genet & Genome Res Inst, Clin Genet Dept, Cairo, Egypt

[22] IRCCS Inst Giannina Gaslini, Neuroradiol Unit, Genoa, Italy

[23] Washington Univ St Louis, Dept Cell Biol & Physiol, St Louis, MO USA

[24] Ctr Invest Membrane Excitabil Dis, St Louis, MO USA

[25] Innlandet Hosp Sanderud, Div Habilitat Children, Hamar, Norway

[26] Western Gen Hosp, South East Scotland Genet Serv, Edinburgh, Midlothian, Scotland

[27] Queen Elizabeth Univ Hosp, West Scotland Genet Serv, Glasgow, Lanark, Scotland

[28] Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands

[29] Univ Hosp North Norway, Dept Pediat Rehabil, Tromso, Norway

[30] UiT Arctic Univ Norway, Tromso, Norway

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

基金：

英国惠康基金;

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：

P10.056.C

引用

页码：1456 / 1456

页数：1

共 41 条

[1] Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
Efthymiou, Stephanie
Scala, Marcello
Nagaraj, Vini
Ochenkowska, Katarzyna
Komdeur, Fenne L.
Liang, Robin A.
Abdel-Hamid, Mohamed S.
Sultan, Tipu
Baroy, Tuva
Van Ghelue, Marijke
Vona, Barbara
Maroofian, Reza
Zafar, Faisal
Alkuraya, Fowzan S.
Zaki, Maha S.
Severino, Mariasavina
Duru, Kingsley C.
Tryon, Robert C.
Brauteset, Lin Vigdis
Ansari, Morad
Hamilton, Mark
van Haelst, Mieke M.
van Haaften, Gijs
Zara, Federico
Houlden, Henry
Samarut, Eric
Nichols, Colin G.
Smeland, Marie F.
Mcclenaghan, Conor
BRAIN, 2024, 147 (05) : 1822 - 1836
[2] ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
Smeland, Marie F.
McClenaghan, Conor
Roessler, Helen I.
Savelberg, Sanne
Hansen, Geir Asmund Myge
Hjellnes, Helene
Arntzen, Kjell Arne
Mueller, Kai Ivar
Dybesland, Andreas Rosenberger
Harter, Theresa
Sala-Rabanal, Monica
Emfinger, Chris H.
Huang, Yan
Singareddy, Soma S.
Gunn, Jamie
Wozniak, David F.
Kovacs, Attila
Massink, Maarten
Tessadori, Federico
Kamel, Sarah M.
Bakkers, Jeroen
Remedi, Maria S.
Van Ghelue, Marijke
Nichols, Colin G.
van Haaften, Gijs
NATURE COMMUNICATIONS, 2019, 10 (1)
[3] ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
Marie F. Smeland
Conor McClenaghan
Helen I. Roessler
Sanne Savelberg
Geir Åsmund Myge Hansen
Helene Hjellnes
Kjell Arne Arntzen
Kai Ivar Müller
Andreas Rosenberger Dybesland
Theresa Harter
Monica Sala-Rabanal
Chris H. Emfinger
Yan Huang
Soma S. Singareddy
Jamie Gunn
David F. Wozniak
Attila Kovacs
Maarten Massink
Federico Tessadori
Sarah M. Kamel
Jeroen Bakkers
Maria S. Remedi
Marijke Van Ghelue
Colin G. Nichols
Gijs van Haaften
Nature Communications, 10
[4] Novel variants of ABCC9 in Japanese children with Cantu syndrome
Kubota, Kazuo
Yamamoto, Takahiro
Miyatake, Satoko
Matsumoto, Naomichi
Fukao, Toshiyuki
PEDIATRICS INTERNATIONAL, 2020, 62 (03) : 410 - 412
[5] Case Report: Loss-of-Function ABCC9 Genetic Variant Associated With Ventricular Fibrillation
Zaytseva, Anastasia
Tulintseva, Tatyana
Fomicheva, Yulya
Mikhailova, Valeria
Treshkur, Tatiana
Kostareva, Anna
FRONTIERS IN GENETICS, 2022, 13
[6] ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene
Hu, Dan
Barajas-Martinez, Hector
Terzic, Andre
Park, Sungjo
Pfeiffer, Ryan
Burashnikov, Elena
Wu, Yuesheng
Borggrefe, Martin
Veltmann, Christian
Schimpf, Rainer
Cai, John J.
Nam, Gi-Byong
Deshmukh, Pramod
Scheinman, Melvin
Preminger, Mark
Steinberg, Jonathan
Lopez-Izquierdo, Angelica
Ponce-Balbuena, Daniela
Wolpert, Christian
Haissaguerre, Michel
Antonio Sanchez-Chapula, Jose
Antzelevitch, Charles
INTERNATIONAL JOURNAL OF CARDIOLOGY, 2014, 171 (03) : 431 - 442
[7] Cantu syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants
Kortuem, Fanny
Niceta, Marcello
Magliozzi, Monia
Kubat, Katja Dumic
Robertson, Stephen P.
Moresco, Angelica
Dentici, Maria Lisa
Baban, Anwar
Leoni, Chiara
Onesimo, Roberta
Obregon, Maria Gabriela
Digilio, Maria Cristina
Zampino, Giuseppe
Novelli, Antonio
Tartaglia, Marco
Kutsche, Kerstin
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (09)
[8] Novel ABCC9 missense mutation in a Chinese infant with Cantu syndrome without skeletal manifestations
Guo, R.
Hao, C.
Qian, S.
Li, W.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1306 - 1307
[9] Cantu syndrome with novel pathogenic variant in nucleotide-binding domain 1 of ABCC9
Yokoi, Takayuki
Enomoto, Yumi
Tsurusaki, Yoshinori
Naruto, Takuya
Kurosawa, Kenji
PEDIATRICS INTERNATIONAL, 2020, 62 (10) : 1206 - 1208
[10] Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability
Natja Haag
Ene-Choo Tan
Matthias Begemann
Lars Buschmann
Florian Kraft
Petra Holschbach
Angeline H. M. Lai
Maggie Brett
Ganeshwaran H. Mochida
Stephanie DiTroia
Lynn Pais
Jennifer E. Neil
Muna Al-Saffar
Laila Bastaki
Christopher A. Walsh
Ingo Kurth
Cordula Knopp
European Journal of Human Genetics, 2021, 29 : 1663 - 1668

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