Genomic analysis identifies masqueraders of full-term cerebral palsy

Annals of Clinical and Translational Neurology
Yusuke TakezawaShigeo Kure

Abstract

Cerebral palsy is a common, heterogeneous neurodevelopmental disorder that causes movement and postural disabilities. Recent studies have suggested genetic diseases can be misdiagnosed as cerebral palsy. We hypothesized that two simple criteria, that is, full-term births and nonspecific brain MRI findings, are keys to extracting masqueraders among cerebral palsy cases due to the following: (1) preterm infants are susceptible to multiple environmental factors and therefore demonstrate an increased risk of cerebral palsy and (2) brain MRI assessment is essential for excluding environmental causes and other particular disorders. A total of 107 patients-all full-term births-without specific findings on brain MRI were identified among 897 patients diagnosed with cerebral palsy who were followed at our center. DNA samples were available for 17 of the 107 cases for trio whole-exome sequencing and array comparative genomic hybridization. We prioritized variants in genes known to be relevant in neurodevelopmental diseases and evaluated their pathogenicity according to the American College of Medical Genetics guidelines. Pathogenic/likely pathogenic candidate variants were identified in 9 of 17 cases (52.9%) within eight genes: CTNNB1,CY...Continue Reading

References

Mar 13, 1999·Developmental Medicine and Child Neurology·E CardoH J Blom
Jun 26, 2003·Nucleic Acids Research·Pauline C Ng, Steven Henikoff
May 21, 2005·Science·Douglas B GouldSimon W M John
Jan 24, 2006·Nature Genetics·Yoshio IkedaLaura P W Ranum
May 10, 2006·Archives of Neurology·Francesca CrippaMaria Teresa Bassi
Jun 20, 2006·Developmental Medicine and Child Neurology·Ann-Christin EliassonPeter Rosenbaum
Jun 15, 2007·Pediatric Neurology·Marcia A BlairPeter Hedera
Oct 7, 2008·Developmental Medicine and Child Neurology·Robert J PalisanoMichael H Livingston
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Apr 1, 2010·Nature Methods·Gregory M CooperDeborah A Nickerson
Jul 6, 2010·Nucleic Acids Research·Kai WangHakon Hakonarson
Jun 29, 2011·Developmental Medicine and Child Neurology·Mary Jo Cooley HideckerKara Taylor
Nov 6, 2012·Developmental Medicine and Child Neurology·Yurika NumataKazuhiro Haginoya
Jan 26, 2013·Developmental Medicine and Child Neurology·Maryam OskouiTamara Pringsheim
Aug 13, 2013·Nature·Andrew S AllenMelodie R Winawer
Nov 1, 2013·Nucleic Acids Research·Jeffrey R MacDonaldStephen W Scherer
Jun 24, 2014·Experimental Neurology·Temistocle Lo GiudiceAntonio Orlacchio
Jul 10, 2014·Research in Developmental Disabilities·Sarah SherwellRobyn Stargatt
Aug 19, 2014·Annals of Neurology·Siddharth SrivastavaAli Fatemi
Oct 5, 2014·Neuromolecular Medicine·Ryan W LeeAli Fatemi
Feb 11, 2015·Molecular Psychiatry·G McMichaelA H MacLennan
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Mar 31, 2015·Neurology·Reeval SegelEphrat Levy-Lahad
Apr 10, 2015·Journal of Child Neurology·Lidia V GabisShahar Shefer
May 15, 2015·European Journal of Human Genetics : EJHG·Hirotomo SaitsuNaomichi Matsumoto
May 20, 2015·Brain : a Journal of Neurology·Ricardo Parolin SchnekenbergAndrea H Németh
May 25, 2015·American Journal of Obstetrics and Gynecology·Alastair H MacLennanJozef Gecz
Jun 11, 2015·Journal of Child Neurology·Neil KulkarniTheresa A Grebe
Aug 4, 2015·Nature Communications·Maryam OskouiStephen W Scherer
Aug 21, 2015·Neurology·Katherine B HowellIngrid E Scheffer
Feb 13, 2016·Neurology·Hannah StambergerSarah Weckhuysen
Feb 26, 2016·Journal of Human Genetics·Koichiro HigasaFumihiko Matsuda
Jul 15, 2016·Science Translational Medicine·Yu MiyazakiChristopher M Gomez

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Citations

Mar 27, 2019·Movement Disorders : Official Journal of the Movement Disorder Society·Toni S PearsonCarolyn M Sue
Apr 5, 2019·Annals of Neurology·Shinya IwasawaShigeo Kure
Jun 17, 2020·Developmental Medicine and Child Neurology·Ryan PhamJesia G Berry
Aug 22, 2018·Annals of Clinical and Translational Neurology·Yusuke TakezawaShigeo Kure
Apr 10, 2019·Journal of Child Neurology·Alastair H MacLennanJozef Gecz
Jun 14, 2019·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Maria João MalaquiasMarina Magalhães
Sep 30, 2020·Nature Genetics·Sheng Chih JinMichael C Kruer
Aug 22, 2018·Annals of Clinical and Translational Neurology·Alastair MacLennanLuis Pérez-Jurado
Jun 18, 2019·Journal of Central Nervous System Disease·Shahad AlSaifMajid Alfadhel
Dec 14, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Allison M MatthewsUNKNOWN TIDE BC, United for Metabolic Diseases and the CAUSES Study
Feb 9, 2021·Frontiers in Neurology·Sara A LewisMichael C Kruer
Nov 5, 2020·BMC Pediatrics·Luan Freitas OliveiraAngelica Francesca Maris
Oct 28, 2020·Journal of Internal Medicine·A LegrandJ Albuisson
Nov 11, 2019·American Journal of Ophthalmology·Mai-Lan HoMichael C Brodsky
Mar 30, 2021·Molecular Genetics and Metabolism·Gabriella A HorvathCarlos R Ferreira
Aug 20, 2019·Annals of Physical and Rehabilitation Medicine·Stéphane ChabrierMickael Dinomais
Jun 12, 2021·Developmental Medicine and Child Neurology·Halie J MayJason B Carmel
Jul 30, 2021·Journal of Medical Genetics·Michal YechieliReeval Segel
Aug 31, 2021·Brain & Development·Moriei ShibuyaKazuhiro Haginoya
Dec 12, 2021·American Journal of Medical Genetics. Part a·Ruth RichardsonMeena Balasubramanian

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Methods Mentioned

BETA
Exome Sequencing
electrophoresis
Protein Assay
PCR

Software Mentioned

PolyPhen2 HVAR
ANNOVAR
Genome Analysis Toolkit ( GATK )
Burrows Aligner ( BWA )

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