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

[41] Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
Alma Kuechler
Alexander M Zink
Thomas Wieland
Hermann-Josef Lüdecke
Kirsten Cremer
Leonardo Salviati
Pamela Magini
Kimia Najafi
Christiane Zweier
Johanna Christina Czeschik
Stefan Aretz
Sabine Endele
Federica Tamburrino
Claudia Pinato
Maurizio Clementi
Jasmin Gundlach
Carina Maylahn
Laura Mazzanti
Eva Wohlleber
Thomas Schwarzmayr
Roxana Kariminejad
Avner Schlessinger
Dagmar Wieczorek
Tim M Strom
Gaia Novarino
Hartmut Engels
European Journal of Human Genetics, 2015, 23 : 753 - 760

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