Potential clinical applications of advanced genomic analysis in cerebral palsy

被引:0
作者
Lewis, Sara A. [1 ,2 ,3 ,4 ,5 ]
Ruttenberg, Andrew [6 ]
Iyiyol, Tugce [6 ]
Kong, Nahyun [6 ]
Jin, Sheng Chih [6 ,7 ]
Kruer, Michael C. [1 ,2 ,3 ,4 ,5 ,6 ,8 ,9 ]
机构
[1] Phoenix Childrens Hosp, Barrow Neurol Inst, Pediat Movement Disorders Program, Phoenix, AZ 85016 USA
[2] Univ Arizona, Coll Med, Dept Child Hlth, Phoenix, AZ USA
[3] Univ Arizona, Coll Med, Dept Neurol, Phoenix, AZ USA
[4] Univ Arizona, Coll Med, Dept Cellular & Mol Med, Phoenix, AZ USA
[5] Univ Arizona, Coll Med, Program Genet, Phoenix, AZ USA
[6] Washington Univ, Sch Med, Dept Genet, St Louis, MO 63130 USA
[7] Washington Univ, Sch Med, Dept Pediat, St Louis, MO USA
[8] Arizona State Univ, Sch Life Sci, Programs Neurosci, Tempe, AZ USA
[9] Arizona State Univ, Sch Life Sci, Programs Mol & Cellular Biol, Tempe, AZ USA
来源
EBIOMEDICINE | 2024年 / 106卷
关键词
Cerebral Palsy; Clinical genetic testing; Personalized medicine; Clinical actionability; Genomic technologies; WES; WGS; COPY-NUMBER VARIATIONS; DIAGNOSTIC YIELD; DEVELOPMENTAL-DISABILITIES; DE-NOVO; VARIANTS; AUTISM; IDENTIFICATION; ASSOCIATION; DISORDERS; CHILDREN;
D O I
10.1016/j.ebiom.2024.105229
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Cerebral palsy (CP) has historically been attributed to acquired insults, but emerging research suggests that genetic variations are also important causes of CP. While microarray and whole-exome sequencing based studies have been the primary methods for establishing new CP-gene relationships and providing a genetic etiology for individual patients, the cause of their condition remains unknown for many patients with CP. Recent advancements in genomic technologies offer additional opportunities to uncover variations in human genomes, transcriptomes, and epigenomes that have previously escaped detection. In this review, we outline the use of these state-of-the-art technologies to address the molecular diagnostic challenges experienced by individuals with CP. We also explore the importance of identifying a molecular etiology whenever possible, given the potential for genomic medicine to provide opportunities to treat patients with CP in new and more precise ways. Copyright (c) 2024 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
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页数:12
相关论文
共 124 条
  • [1] Will long-read sequencing technologies replace short-read sequencing technologies in the next 10 years?
    Adewale, Boluwatife A.
    [J]. AFRICAN JOURNAL OF LABORATORY MEDICINE, 2020, 9 (01)
  • [2] Genomics in Cerebral Palsy phenotype across the lifespan: Comparison of diagnostic yield between children and adult population
    Al Zahrani, Haifa
    Siriwardena, Komudi
    Young, Dana
    Lehman, Anna
    Horvath, Gabriella A.
    Goez, Helly
    [J]. MOLECULAR GENETICS AND METABOLISM, 2022, 137 (04) : 420 - 427
  • [3] Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
    AlAbdi, Lama
    Shamseldin, Hanan E.
    Khouj, Ebtissal
    Helaby, Rana
    Aljamal, Bayan
    Alqahtani, Mashael
    Almulhim, Aisha
    Hamid, Halima
    Hashem, Mais O.
    Abdulwahab, Firdous
    Abouyousef, Omar
    Jaafar, Amal
    Alshidi, Tarfa
    Al-Owain, Mohammed
    Alhashem, Amal
    Al Tala, Saeed
    Khan, Arif O.
    Mardawi, Elham
    Alkuraya, Hisham
    Faqeih, Eissa
    Afqi, Manal
    Alkhalifi, Salwa
    Rahbeeni, Zuhair
    Hagos, Samya T.
    Al-Ahmadi, Wijdan
    Nadeef, Seba
    Maddirevula, Sateesh
    Khabar, Khalid S. A.
    Putra, Alexander
    Angelov, Angel
    Park, Changsook
    Reyes-Ramos, Ana M.
    Umer, Husen
    Ullah, Ikram
    Driguez, Patrick
    Fukasawa, Yoshinori
    Cheung, Ming Sin
    Gallouzi, Imed Eddine
    Alkuraya, Fowzan S.
    [J]. GENOME MEDICINE, 2023, 15 (01)
  • [4] Variability in Cerebral Palsy Diagnosis
    Aravamuthan, Bhooma R.
    Fehlings, Darcy
    Shetty, Sheetal
    Fahey, Michael
    Gilbert, Laura
    Tilton, Ann
    Kruer, Michael C.
    [J]. PEDIATRICS, 2021, 147 (02)
  • [5] Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome
    Begum, Ghausia
    Albanna, Ammar
    Bankapur, Asma
    Nassir, Nasna
    Tambi, Richa
    Berdiev, Bakhrom K.
    Akter, Hosneara
    Karuvantevida, Noushad
    Kellam, Barbara
    Alhashmi, Deena
    Sung, Wilson W. L.
    Thiruvahindrapuram, Bhooma
    Alsheikh-Ali, Alawi
    Scherer, Stephen W.
    Uddin, Mohammed
    [J]. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (04) : 1 - 14
  • [6] Clinical genomic testing: what matters to key stakeholders?
    Best, Stephanie
    Stark, Zornitza
    Phillips, Peta
    Wu, You
    Long, Janet C.
    Taylor, Natalie
    Braithwaite, Jeffrey
    Christodoulou, John
    Goranitis, Ilias
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (07) : 866 - 873
  • [7] Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutieres Syndrome as an Example
    Beysen, Diane
    De Cordt, Chania
    Dielman, Charlotte
    Ogunjimi, Benson
    Dandelooy, Julie
    Reyniers, Edwin
    Janssens, Katrien
    Meuwissen, Marije M. E.
    [J]. FRONTIERS IN NEUROLOGY, 2021, 12
  • [8] The Efficacy of Whole Genome Sequencing and RNA-Seq in the Diagnosis of Whole Exome Sequencing Negative Patients with Complex Neurological Phenotypes
    Blake, Bianca
    Brady, Lauren, I
    Rouse, Nicholas A.
    Nagy, Peter
    Tarnopolsky, Mark A.
    [J]. JOURNAL OF PEDIATRIC GENETICS, 2023, 12 (03) : 206 - 212
  • [9] Pharmacological and neurosurgical interventions for individuals with cerebral palsy and dystonia: a systematic review update and meta-analysis
    Bohn, Emma
    Goren, Katherine
    Switzer, Lauren
    Falck-Ytter, Yngve
    Fehlings, Darcy
    [J]. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2021, 63 (09) : 1038 - +
  • [10] Paternally inherited cis-regulatory structural variants are associated with autism
    Brandler, William M.
    Antaki, Danny
    Gujral, Madhusudan
    Kleiber, Morgan L.
    Whitney, Joe
    Maile, Michelle S.
    Hong, Oanh
    Chapman, Timothy R.
    Tan, Shirley
    Tandon, Prateek
    Pang, Timothy
    Tang, Shih C.
    Vaux, Keith K.
    Yang, Yan
    Harrington, Eoghan
    Juul, Sissel
    Turner, Daniel J.
    Thiruvahindrapuram, Bhooma
    Kaur, Gaganjot
    Wang, Zhuozhi
    Kingsmore, Stephen F.
    Gleeson, Joseph G.
    Bisson, Denis
    Kakaradov, Boyko
    Telenti, Amalio
    Venter, J. Craig
    Corominas, Roser
    Toma, Claudio
    Cormand, Bru
    Rueda, Isabel
    Guijarro, Silvina
    Messer, Karen S.
    Nievergelt, Caroline M.
    Arranz, Maria J.
    Courchesne, Eric
    Pierce, Karen
    Muotri, Alysson R.
    Iakoucheva, Lilia M.
    Hervas, Amaia
    Scherer, Stephen W.
    Corsello, Christina
    Sebat, Jonathan
    [J]. SCIENCE, 2018, 360 (6386) : 327 - 330