LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact

被引：8

作者：

Beetz, Christian ^{[1
]}

Westenberger, Ana ^{[1
,2
]}

Al-Ali, Ruslan ^{[1
]}

Ameziane, Najim ^{[1
]}

Alhashmi, Nadia ^{[3
]}

Boustany, Rose-Mary ^{[4
,5
,6
]}

Al Mutairi, Fuad ^{[7
,8
]}

Alfadhel, Majid ^{[7
,8
]}

Al-Hassnan, Zuhair ^{[9
,10
]}

AlSayed, Moenaldeen ^{[9
,10
]}

Kandaswamy, Krishna K. ^{[1
]}

Paknia, Omid ^{[1
]}

Skrahina, Volha ^{[1
]}

Rolfs, Arndt ^{[1
,11
]}

Bauer, Peter ^{[1
]}

机构：

[1] CENTOGENE GmbH, Strande 7, D-18055 Rostock, Germany

[2] Univ Lubeck, Inst Neurogenet, Lubeck, Germany

[3] Royal Hosp, Natl Genet Ctr, Muscat, Oman

[4] Amer Univ Beirut, Med Ctr, Neurogenet Program, AUBMC Special Kids Clin, Beirut, Lebanon

[5] Amer Univ Beirut, Med Ctr, Div Pediat Neurol, Dept Pediat & Adolescent Med, Beirut, Lebanon

[6] Amer Univ Beirut, Med Ctr, Dept Biochem & Mol Genet, Beirut, Lebanon

[7] King Abdul Aziz Med City, Genet & Precis Med Dept, King Abdullah Specialist Children Hosp, MNGHA, Riyadh, Saudi Arabia

[8] King Saud bin Abdulaziz Univ Hlth Sci, King Abdullah Int Med Res Ctr KAIMRC, MNGHA, Riyadh, Saudi Arabia

[9] King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

[10] Alfaisal Univ, Coll Med, Riyadh, Saudi Arabia

[11] Univ Rostock, Fac Med, Rostock, Germany

来源：

MOVEMENT DISORDERS | 2021年 / 36卷 / 04期

关键词：

D O I：

10.1002/mds.28452

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：1029 / 1031

页数：3

共 7 条

[1] The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans [J].

Ardlie, Kristin G. ;

DeLuca, David S. ;

Segre, Ayellet V. ;

Sullivan, Timothy J. ;

Young, Taylor R. ;

Gelfand, Ellen T. ;

Trowbridge, Casandra A. ;

Maller, Julian B. ;

Tukiainen, Taru ;

Lek, Monkol ;

Ward, Lucas D. ;

Kheradpour, Pouya ;

Iriarte, Benjamin ;

Meng, Yan ;

Palmer, Cameron D. ;

Esko, Tonu ;

Winckler, Wendy ;

Hirschhorn, Joel N. ;

Kellis, Manolis ;

MacArthur, Daniel G. ;

Getz, Gad ;

Shabalin, Andrey A. ;

Li, Gen ;

Zhou, Yi-Hui ;

Nobel, Andrew B. ;

Rusyn, Ivan ;

Wright, Fred A. ;

Lappalainen, Tuuli ;

Ferreira, Pedro G. ;

Ongen, Halit ;

Rivas, Manuel A. ;

Battle, Alexis ;

Mostafavi, Sara ;

Monlong, Jean ;

Sammeth, Michael ;

Mele, Marta ;

Reverter, Ferran ;

Goldmann, Jakob M. ;

Koller, Daphne ;

Guigo, Roderic ;

McCarthy, Mark I. ;

Dermitzakis, Emmanouil T. ;

Gamazon, Eric R. ;

Im, Hae Kyung ;

Konkashbaev, Anuar ;

Nicolae, Dan L. ;

Cox, Nancy J. ;

Flutre, Timothee ;

Wen, Xiaoquan ;

Stephens, Matthew .

SCIENCE, 2015, 348 (6235) :648-660

[2] Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population [J].

Bauer, Peter ;

Kandaswamy, Krishna Kumar ;

Weiss, Maximilian E. R. ;

Paknia, Omid ;

Werber, Martin ;

Bertoli-Avella, Aida M. ;

Yueksel, Zafer ;

Bochinska, Malgorzata ;

Oprea, Gabriela E. ;

Kishore, Shivendra ;

Weckesser, Volkmar ;

Karges, Ellen ;

Rolfs, Arndt .

GENETICS IN MEDICINE, 2019, 21 (01) :53-61

[3] Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease [J].

Blauwendraat, Cornelis ;

Reed, Xylena ;

Kia, Demis A. ;

Gan-Or, Ziv ;

Lesage, Suzanne ;

Pihistrom, Lasse ;

Guerreiro, Rita ;

Gibbs, J. Raphael ;

Sabir, Marya ;

Ahmed, Sarah ;

Ding, Jinhui ;

Alcalay, Roy N. ;

Hassin-Baer, Sharon ;

Pittman, Alan M. ;

Brooks, Janet ;

Edsall, Connor ;

Hernandez, Dena G. ;

Chung, Sun Ju ;

Goldwurm, Stefano ;

Toft, Mathias ;

Schulte, Claudia ;

Bras, Jose ;

Wood, Nicholas W. ;

Brice, Alexis ;

Morris, Huw R. ;

Scholz, Sonja W. ;

Nalls, Mike A. ;

Singleton, Andrew B. ;

Cookson, Mark R. .

JAMA NEUROLOGY, 2018, 75 (11) :1416-1422

[4] Effect of selective LRRK2 kinase inhibition on nonhuman primate lung [J].

Fuji, Reina N. ;

Flagella, Michael ;

Baca, Miriam ;

Baptista, Marco A. S. ;

Brodbeck, Jens ;

Chan, Bryan K. ;

Fiske, Brian K. ;

Honigberg, Lee ;

Jubb, Adrian M. ;

Katavolos, Paula ;

Lee, Donna W. ;

Lewin-Koh, Sock-Cheng ;

Lin, Tori ;

Liu, Xingrong ;

Liu, Shannon ;

Lyssikatos, Joseph P. ;

O'Mahony, Jennifer ;

Reichelt, Mike ;

Roose-Girma, Merone ;

Sheng, Zejuan ;

Sherer, Todd ;

Smith, Ashley ;

Solon, Margaret ;

Sweeney, Zachary K. ;

Tarrant, Jacqueline ;

Urkowitz, Alison ;

Warming, Soren ;

Yaylaoglu, Murat ;

Zhang, Shuo ;

Zhu, Haitao ;

Estrada, Anthony A. ;

Watts, Ryan J. .

SCIENCE TRANSLATIONAL MEDICINE, 2015, 7 (273) :273ra15

[5] LRRK2 in Parkinson disease: challenges of clinical trials [J].

Tolosa, Eduardo ;

Vila, Miquel ;

Klein, Christine ;

Rascol, Olivier .

NATURE REVIEWS NEUROLOGY, 2020, 16 (02) :97-107

[6] A comprehensive global genotype-phenotype database for rare diseases [J].

Trujillano, Daniel ;

Oprea, Gabriela-Elena ;

Schmitz, Yvonne ;

Bertoli-Avella, Aida M. ;

Abou Jamra, Rami ;

Rolfs, Arndt .

MOLECULAR GENETICS & GENOMIC MEDICINE, 2017, 5 (01) :66-75

[7] The effect of LRRK2 loss-of-function variants in humans [J].

Whiffin, Nicola ;

Armean, Irina M. ;

Kleinman, Aaron ;

Marshall, Jamie L. ;

Minikel, Eric V. ;

Goodrich, Julia K. ;

Quaife, Nicholas M. ;

Cole, Joanne B. ;

Wang, Qingbo ;

Karczewski, Konrad J. ;

Cummings, Beryl B. ;

Francioli, Laurent ;

Laricchia, Kristen ;

Guan, Anna ;

Alipanahi, Babak ;

Morrison, Peter ;

Baptista, Marco A. S. ;

Merchant, Kalpana M. ;

Ware, James S. ;

Havulinna, Aki S. ;

Iliadou, Bozenna ;

Lee, Jung-Jin ;

Nadkarni, Girish N. ;

Whiteman, Cole ;

Daly, Mark ;

Esko, Tonu ;

Hultman, Christina ;

Loos, Ruth J. F. ;

Milani, Lili ;

Palotie, Aarno ;

Pato, Carlos ;

Pato, Michele ;

Saleheen, Danish ;

Sullivan, Patrick F. ;

Alfoldi, Jessica ;

Cannon, Paul ;

MacArthur, Daniel G. .

NATURE MEDICINE, 2020, 26 (06) :869-+

← 1 →