Bi-allelic variants in the neuronal cell adhesion molecule NRCAM lead to a novel neurodevelopmental disorder characterized by developmental delay, hypotonia, peripheral neuropathy or spasticity

被引：0

作者：

Kurolap, Alina ^{[1
,2
,3
,4
]}

Kreuder, Florian ^{[5
]}

Gonzaga-Jauregui, Claudia ^{[6
]}

Duvdevani, Morasha Plesser ^{[7
,8
]}

Harel, Tamar ^{[7
,8
]}

Tammer, Luna ^{[9
]}

Xin, Baozhong ^{[10
]}

Bakhtiari, Somayeh ^{[11
,12
,13
]}

Rice, James ^{[14
]}

van Eyk, Clare ^{[15
]}

Gecz, Jozef ^{[15
,16
]}

Mah, Jean K. ^{[17
,18
]}

Atkinson, Derek ^{[19
,20
]}

Cope, Heidi ^{[21
]}

Sullivan, Jennifer A. ^{[21
]}

Douek, Alon M.

Colquhoun, Daniel

Henry, Jason ^{[22
]}

Wlodkowic, Donald ^{[22
]}

Parman, Yesim ^{[23
]}

Candayan, Ayse ^{[24
]}

Kocasoy-Orhan, Elif ^{[23
]}

Ilivitzki, Anat ^{[4
,25
]}

Soudri, Shiri ^{[4
,26
]}

Leibu, Rina ^{[26
]}

Glaser, Fabian ^{[27
]}

Sency, Valerie

Ast, Gil ^{[9
]}

Shashi, Vandana

Fahey, Michael C. ^{[28
]}

Battaloglu, Esra ^{[24
]}

Jordanova, Albena ^{[20
,29
]}

Meiner, Vardiella ^{[10
]}

Innes, A. Micheil ^{[30
]}

Wang, Heng

Elpeleg, Orly

Kruer, Michael C. ^{[11
,12
,13
]}

Kaslin, Jan ^{[5
]}

Feldman, Hagit Baris ^{[31
]}

机构：

[1] Tel Aviv Sourasky Med Ctr, Genet Inst, Tel Aviv, Israel

[2] Tel Aviv Sourasky Med Ctr, Genom Ctr, Tel Aviv, Israel

[3] Rambam Hlth Care Campus, Genet Inst, Haifa, Israel

[4] Technion Israel Inst Technol, Ruth & Bruce Rappaport Fac Med, Haifa, Israel

[5] Monash Univ, Australian Regenerat Med Inst, Melbourne, Vic, Australia

[6] Regeneron Genom Ctr, Regeneron Pharmaceut, Tarrytown, NY USA

[7] Hadassah Med Ctr, Dept Genet, Jerusalem, Israel

[8] Hebrew Univ Jerusalem, Fac Med, Jerusalem, Israel

[9] Tel Aviv Univ, Dept Human Mol Genet & Biochem, Sackler Fac Med, Tel Aviv, Israel

[10] DDC Clin Ctr Special Needs Children, Middlefiled, OH USA

[11] Barrow Neurol Inst, Phoenix Childrens Hosp, Div Pediat Neurol, Pediat Movement Disorders Program, Phoenix, AZ USA

[12] Univ Arizona, Coll Med Phoenix, Dept Child Hlth Neurol & Cellular, Phoenix, AZ USA

[13] Univ Arizona, Coll Med Phoenix, Dept Mol Med & Program Genet, Phoenix, AZ USA

[14] Womens & Childrens Hosp, Paediat Rehabil, Adelaide, SA, Australia

[15] Univ Adelaide, Robinson Res Inst, Adelaide, SA, Australia

[16] South Australian Hlth & Med Res Inst, Adelaide, SA, Australia

[17] Univ Calgary, Dept Pediat, Calgary, AB, Canada

[18] Alberta Childrens Hosp Res Inst, Cumming Sch Med, Calgary, AB, Canada

[19] Max Planck Inst Immunobiol & Epigenet, Freiburg, Germany

[20] Univ Antwerp, VIB UAntwerp Ctr Mol Neurol, Mol Neurogenom Grp, Antwerp, Belgium

[21] Duke Univ, Div Med Genet, Dept Pediat, Med Ctr, Durham, NC USA

[22] RMIT Univ, Sch Sci, Melbourne, Vic, Australia

[23] Istanbul Univ, Dept Neurol, Istanbul Fac Med, Istanbul, Turkiye

[24] Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkiye

[25] Rambam Hlth Care Campus, Pediat Radiol Unit, Haifa, Israel

[26] Rambam Hlth Care Campus, Dept Ophthalmol, Haifa, Israel

[27] Technion Israel Inst Technol, Lorry Lokey Interdisciplinary Ctr Life Sci & Engn, Haifa, Israel

[28] Monash Univ, Dept Pediat, Melbourne, Vic, Australia

[29] Med Univ Sofia, Dept Med Chem & Biochem, Mol Med Ctr, Sofia, Bulgaria

[30] Alberta Childrens Prov Gen Hosp, Dept Pediat, Calgary, AB, Canada

[31] Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel

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：

C01.6

引用

页码：9 / 10

页数：2

共 4 条

[1] Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
Kurolap, Alina
Kreuder, Florian
Gonzaga-Jauregui, Claudia
Duvdevani, Morasha Plesser
Harel, Tamar
Tammer, Luna
Xin, Baozhong
Bakhtiari, Somayeh
Rice, James
van Eyk, Clare L.
Gecz, Jozef
Mah, Jean K.
Atkinson, Derek
Cope, Heidi
Sullivan, Jennifer A.
Douek, Alon M.
Colquhoun, Daniel
Henry, Jason
Wlodkowic, Donald
Parman, Yesim
Candayan, Ayse
Kocasoy-Orhan, Elif
Ilivitzki, Anat
Soudry, Shiri
Leibu, Rina
Glaser, Fabian
Sency, Valerie
Ast, Gil
Shashi, Vandana
Fahey, Michael C.
Battalog, Esra
Jordanova, Albena
Meiner, Vardiella
Innes, A. Micheil
Wang, Heng
Elpeleg, Orly
Kruer, Michael C.
Kaslin, Jan
Feldman, Hagit Baris
AMERICAN JOURNAL OF HUMAN GENETICS, 2022, 109 (03) : 518 - 532
[2] Bi-allelic missense variants in oxoglutarate dehydrogenase (OGDH) lead to a neurodevelopmental disorder characterised by hypotonia, developmental delay and metabolic abnormalities
Whittle, Ella
Chilian, Madison
Progri, Helga
Karimiani, Eshan Ghayoor
Buhas, Daniela
Shelihan, Ivan
Colombo, Roberto
Serretti, Alessandro
Yang, Hui
Lee, Sukyeong
Pittman, Alan M.
Maroofian, Reza
Yoon, Wan-Hee
Carroll, Christopher J.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 39 - 39
[3] Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
Morimoto, Marie
Waller-Evans, Helen
Ammous, Zineb
Song, Xiaofei
Strauss, Kevin A.
Pehlivan, Davut
Gonzaga-Jauregui, Claudia
Puffenberger, Erik G.
Holst, Charles R.
Karaca, Ender
Brigatti, Karlla W.
Maguire, Emily
Coban-Akdemir, Zeynep H.
Amagata, Akiko
Lau, C. Christopher
Chepa-Lotrea, Xenia
Macnamara, Ellen
Tos, Tulay
Isikay, Sedat
Nehrebecky, Michele
Overton, John D.
Klein, Matthew
Markello, Thomas C.
Posey, Jennifer E.
Adams, David R.
Lloyd-Evans, Emyr
Lupski, James R.
Gahl, William A.
Malicdan, May Christine V.
AMERICAN JOURNAL OF HUMAN GENETICS, 2018, 103 (05) : 794 - 807
[4] De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy
Usmani, Muhammad A.
Ahmed, Zubair M.
Magini, Pamela
Pienkowski, Victor Murcia
Rasmussen, Kristen J.
Hernan, Rebecca
Rasheed, Faiza
Hussain, Mureed
Shahzad, Mohsin
Lanpher, Brendan C.
Niu, Zhiyv
Lim, Foong-Yen
Pippucci, Tommaso
Ploski, Rafal
Kraus, Verena
Matuszewska, Karolina
Palombo, Flavia
Kianmahd, Jessica
Martinez-Agosto, Julian A.
Lee, Hane
Colao, Emma
Motazacker, M. Mahdi
Brigatti, Karlla W.
Puffenberger, Erik G.
Riazuddin, S. Amer
Gonzaga-Jauregui, Claudia
Chung, Wendy K.
Wagner, Matias
Schultz, Matthew J.
Seri, Marco
Kievit, Anneke J. A.
Perrotti, Nicola
Wassink-Ruiter, J. S. Klein
van Bokhoven, Hans
Riazuddin, Sheikh
Riazuddin, Saima
AMERICAN JOURNAL OF HUMAN GENETICS, 2021, 108 (07) : 1330 - 1341

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