Biallelic variants in GTF3C3 result in an autosomal recessive intellectual disability

被引：0

作者：

Dias, Kerith-Rae ^{[1
,2
]}

Begemann, Anais ^{[3
]}

Blok, Laura ^{[4
]}

Long, Jingyi ^{[4
]}

De Hayr, Lachlan ^{[5
,6
]}

Evans, Carey-Anne ^{[1
,7
]}

Zhu, Ying ^{[7
]}

Field, Mike ^{[8
]}

Ma, Alan ^{[9
,10
]}

Leffler, Melanie ^{[8
]}

Ades, Lesley ^{[9
,10
]}

Josephi-Taylor, Sarah ^{[9
,10
]}

Pfundt, Rolph ^{[4
]}

Zaki, Maha ^{[11
]}

Tomoum, Hoda ^{[12
]}

Houlden, Henry ^{[13
]}

Rocca, Clarissa ^{[13
]}

Efthymiou, Stephanie ^{[13
]}

Gregor, Anne ^{[14
,15
]}

Reis, Andre ^{[15
]}

Maddirevula, Sateesh ^{[16
]}

Zweier, Markus ^{[3
]}

Alkuraya, Fowzan ^{[16
,17
]}

Buckley, Michael ^{[7
]}

Maroofian, Reza ^{[13
]}

Gleeson, Joseph ^{[18
,19
]}

Coll-Tane, Mireia ^{[4
]}

Koolen, David ^{[4
]}

Harvey, Robert

Zweier, Christiane ^{[14
,15
]}

Schenck, Annette ^{[4
]}

Roscioli, Tony ^{[1
,7
,20
]}

Rauch, Anita ^{[3
,21
,22
,23
]}

机构：

[1] Neurosci Res Australia NeuRA, Sydney, NSW, Australia

[2] Univ New South Wales, Prince Wales Clin Sch, Fac Med, Sydney, NSW, Australia

[3] Univ Zurich, Inst Med Genet, Zurich, Switzerland

[4] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, Nijmegen, Netherlands

[5] Univ Sunshine Coast, Sch Hlth & Behav Sci, Maroochydore, Australia

[6] Sunshine Coast Hlth Inst, Birtinya, Australia

[7] Prince Wales Hosp, New South Wales Hlth Pathol Randwick Genom, Randwick, NSW, Australia

[8] John Hunter Hosp, Genet Learning Disabil Serv, Newcastle, NSW, Australia

[9] Childrens Hosp Westmead, Sydney Childrens Hosp Network, Dept Clin Genet, Sydney, NSW, Australia

[10] Univ Sydney, Sydney Med Sch, Specialty Genom Med, Sydney, NSW, Australia

[11] Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo, Egypt

[12] Ain Shams Univ, Dept Pediat, Cairo, Egypt

[13] UCL, Inst Neurol, Dept Neuromuscular Disorders, London, England

[14] Univ Bern, Univ Hosp Bern, Dept Human Genet, Inselspital, Bern, Switzerland

[15] Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Inst Human Genet, Erlangen, Germany

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

[17] Prince Sultan Mil Med City, Dept Pediat, Riyadh, Saudi Arabia

[18] Univ Calif San Diego, Dept Neurosci, San Diego, CA USA

[19] Rady Childrens Inst Genom Med, San Diego, CA USA

[20] Sydney Childrens Hosp, Clin Genet Ctr, Randwick, NSW, Australia

[21] ITINER ARE Univ Zurich Res Prior Program, Zurich, Switzerland

[22] Univ Zurich, Zurich, Switzerland

[23] Swiss Fed Inst Technol, Neurosci Ctr Zurich, Zurich, Switzerland

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷

基金：

澳大利亚国家健康与医学研究理事会;

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：

C01.2

引用

页码：7 / 8

页数：2

共 50 条

[1] Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability
De Hayr, Lachlan
Blok, Laura E. R.
Dias, Kerith-Rae
Long, Jingyi
Begemann, Anais
Moir, Robyn D.
Willis, Ian M.
Mocera, Martina
Siegel, Gabriele
Steindl, Katharina
Evans, Carey-Anne
Zhu, Ying
Zhang, Futao
Field, Michael
Ma, Alan
Ades, Lesley
Josephi-Taylor, Sarah
Pfundt, Rolph
Zaki, Maha S.
Tomoum, Hoda
Gregor, Anne
Laube, Julia
Reis, Andre
Maddirevula, Sateesh
Hashem, Mais O.
Zweier, Markus
Alkuraya, Fowzan S.
Maroofian, Reza
Buckley, Michael F.
Gleeson, Joseph G.
Zweier, Christiane
Coll-Tane, Mireia
Koolen, David A.
Rauch, Anita
Roscioli, Tony
Schenck, Annette
Harvey, Robert J.
GENETICS IN MEDICINE, 2025, 27 (01)
[2] Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish
Abdel-Hamid, Mohamed S.
Paimboeuf, Adeline
Zaki, Maha S.
Figueiredo, Fernanda
Abdel-Ghafar, Sherif F.
Maher, Sabrina
Fridriksdottir, Run
Sulem, Patrick
Hognason, Hakon Bjorn
Hallgrimsdottir, Sigrun
Rojas, Catarina Falleiros N.
Kok, Fernando
Suri, Mohnish
Alves, Cesar Augusto P. F.
Houlden, Henry
Maroofian, Reza
Patten, Shunmoogum A.
BRAIN COMMUNICATIONS, 2025, 7 (01)
[3] Biallelic variants in MYL3 cause autosomal recessive cardiomyopathy
Osborn, D. P. S.
Emrahi, L.
Tabrizi, M. T.
Yazdchi, M.
Mazaheri, N.
Mitchell, A.
Hesse, C.
Goullee, H.
Burkardt, D.
Laing, N.
Wan, A. Y. B.
Galehdari, H.
Maroofian, R.
Shariati, G.
Tajsharghi, H.
Jamshidi, Y.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 279 - 279
[4] Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay
Ansar, Muhammad
Riazuddin, Saima
Sarwar, Muhammad Tahir
Makrythanasis, Periklis
Paracha, Sohail Aziz
Iqbal, Zafar
Khan, Jamshed
Assir, Muhammad Zaman
Hussain, Mureed
Razzaq, Attia
Polla, Daniel Lopo
Taj, Abid Sohail
Holmgren, Asbjorn
Batool, Naila
Misceo, Doriana
Iwaszkiewicz, Justyna
de Brouwer, Arjan P. M.
Guipponi, Michel
Hanquinet, Sylviane
Zoete, Vincent
Santoni, Federico A.
Frengen, Eirik
Ahmed, Jawad
Riazuddin, Sheikh
van Bokhoven, Hans
Antonarakis, Stylianos E.
GENETICS IN MEDICINE, 2018, 20 (07) : 778 - 784
[5] FBXL3, novel candidate for autosomal recessive intellectual disability
Makrythanasis, P.
Paracha, S. A.
Ansar, M.
Megarbane, A.
Santoni, F. A.
Guipponi, M.
Ranza, E.
Shah, S. F.
Falconnet, E.
Sarwar, M. T.
Ahmed, J.
Antonarakis, S. E.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 221 - 221
[6] Genetics of autosomal recessive intellectual disability
Jamra, Rami
MEDIZINISCHE GENETIK, 2018, 30 (03): : 323 - 327
[7] Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
Ilyas, Muhammad
Efthymiou, Stephanie
Salpietro, Vincenzo
Noureen, Nuzhat
Zafar, Faisal
Rauf, Sobiah
Mir, Asif
Houlden, Henry
BMC MEDICAL GENETICS, 2020, 21 (01)
[8] Biallelic pathogenic variants in COL9A3 confirm autosomal recessive stickler syndrome
Rad, Aboulfazl
Najafi, Maryam
Suri, Fatemeh
Loum, Stephen
Karimiani, Ehsan Ghayoor
Murphy, David
Doosti, Mohammad
Daftarian, Narsis
Torbati, Paria Najarzadeh
Moghaddasi, Afrooz
Ahmadieh, Hamid
Rajati, Mohsen
Hashemi, Narges
Vona, Barbara
Schmidts, Miriam
EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 139 - 139
[9] Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability
Ziegler, Alban
Bader, Patricia
McWalter, Kirsty
Douglas, Ganka
Houdayer, Clara
Bris, Celine
Rouleau, Stephanie
Coutant, Regis
Colin, Estelle
Bonneau, Dominique
CLINICAL GENETICS, 2019, 96 (04) : 354 - 358
[10] Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants
Yamada, Mamiko
Ono, Masae
Ishii, Tomohiro
Suzuki, Hisato
Uehara, Tomoko
Takenouchi, Toshiki
Kosaki, Kenjiro
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185 (06) : 1836 - 1840

← 1 2 3 4 5 →