Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorSAKAMOTO, Masamune
dc.contributor.authorIWAMA, Kazuhiro
dc.contributor.authorSASAKI, Masayuki
dc.contributor.authorISHIYAMA, Akihiko
dc.contributor.authorKOMAKI, Hirofumi
dc.contributor.authorSAITO, Takashi
dc.contributor.authorTAKESHITA, Eri
dc.contributor.authorSHIMIZU-MOTOHASHI, Yuko
dc.contributor.authorHAGINOYA, Kazuhiro
dc.contributor.authorKOBAYASHI, Tomoko
dc.contributor.authorGOTO, Tomohide
dc.contributor.authorTSUYUSAKI, Yu
dc.contributor.authorIAI, Mizue
dc.contributor.authorKUROSAWA, Kenji
dc.contributor.authorOSAKA, Hitoshi
dc.contributor.authorTOHYAMA, Jun
dc.contributor.authorKOBAYASHI, Yu
dc.contributor.authorOKAMOTO, Nobuhiko
dc.contributor.authorSUZUKI, Yume
dc.contributor.authorKUMADA, Satoko
dc.contributor.authorINOUE, Kenji
dc.contributor.authorMASHIMO, Hideaki
dc.contributor.authorARISAKA, Atsuko
dc.contributor.authorKUKI, Ichiro
dc.contributor.authorSAIJO, Harumi
dc.contributor.authorYOKOCHI, Kenji
dc.contributor.authorKATO, Mitsuhiro
dc.contributor.authorINABA, Yuji
dc.contributor.authorGOMI, Yuko
dc.contributor.authorSAITOH, Shinji
dc.contributor.authorSHIRAI, Kentaro
dc.contributor.authorMORIMOTO, Masafumi
dc.contributor.authorIZUMI, Yuishin
dc.contributor.authorWATANABE, Yoriko
dc.contributor.authorNAGAMITSU, Shin-ichiro
dc.contributor.authorSAKAI, Yasunari
dc.contributor.authorFUKUMURA, Shinobu
dc.contributor.authorMURAMATSU, Kazuhiro
dc.contributor.authorOGATA, Tomomi
dc.contributor.authorYAMADA, Keitaro
dc.contributor.authorISHIGAKI, Keiko
dc.contributor.authorHIRASAWA, Kyoko
dc.contributor.authorSHIMODA, Konomi
dc.contributor.authorAKASAKA, Manami
dc.contributor.authorKOHASHI, Kosuke
dc.contributor.authorSAKAKIBARA, Takafumi
dc.contributor.authorIKUNO, Masashi
dc.contributor.authorSUGINO, Noriko
dc.contributor.authorYONEKAWA, Takahiro
dc.contributor.authorGURSOY, Semra
dc.contributor.authorCINLETI, Tayfun
dc.contributor.authorKIM, Chong Ae
dc.contributor.authorTEIK, Keng Wee
dc.contributor.authorYAN, Chan Mei
dc.contributor.authorHANIFFA, Muzhirah
dc.contributor.authorOHBA, Chihiro
dc.contributor.authorITO, Shuuichi
dc.contributor.authorSAITSU, Hirotomo
dc.contributor.authorSAIDA, Ken
dc.contributor.authorTSUCHIDA, Naomi
dc.contributor.authorUCHIYAMA, Yuri
dc.contributor.authorKOSHIMIZU, Eriko
dc.contributor.authorFUJITA, Atsushi
dc.contributor.authorHAMANAKA, Kohei
dc.contributor.authorMISAWA, Kazuharu
dc.contributor.authorMIYATAKE, Satoko
dc.contributor.authorMIZUGUCHI, Takeshi
dc.contributor.authorMIYAKE, Noriko
dc.contributor.authorMATSUMOTO, Naomichi
dc.date.accessioned2023-04-14T18:00:23Z
dc.date.available2023-04-14T18:00:23Z
dc.date.issued2022
dc.description.abstractPurpose: Cerebellar hypoplasia and atrophy (CBHA) in children is an extremely heterogeneous group of disorders, but few comprehensive genetic studies have been reported. Comprehensive genetic analysis of CBHA patients may help differentiating atrophy and hypoplasia and potentially improve their prognostic aspects. Methods: Patients with CBHA in 176 families were genetically examined using exome sequencing. Patients with disease-causing variants were clinically evaluated. Results: Disease-causing variants were identified in 96 of the 176 families (54.5%). After excluding 6 families, 48 patients from 42 families were categorized as having syndromic associations with CBHA, whereas the remaining 51 patients from 48 families had isolated CBHA. In 51 patients, 26 aberrant genes were identified, of which, 20 (76.9%) caused disease in 1 family each. The most prevalent genes were CACNA1A, ITPR1, and KIF1A. Of the 26 aberrant genes, 21 and 1 were functionally annotated to atrophy and hypoplasia, respectively. CBHA+S was more clinically severe than CBHA-S. Notably, ARG1 and FOLR1 variants were identified in 2 families, leading to medical treatments. Conclusion: A wide genetic and clinical diversity of CBHA was revealed through exome sequencing in this cohort, which highlights the importance of comprehensive genetic analyses. Furthermore, molecular-based treatment was available for 2 families.eng
dc.description.indexMEDLINE
dc.description.indexPubMed
dc.description.indexWoS
dc.description.indexScopus
dc.description.sponsorshipJapan Agency for Medical Research and Development [JP21ek0109486, JP21ek0109549, JP21ek0109493]
dc.description.sponsorshipJapan Society for the Promotion of Science KAKENHI [JP19H03621, JP20K07907, JP20K08164, JP20K17936, JP20K16932, JP21K15097, JP20K17428]
dc.description.sponsorshipTakeda Science Foundation
dc.identifier.citationGENETICS IN MEDICINE, v.24, n.12, p.2453-2463, 2022
dc.identifier.doi10.1016/j.gim.2022.08.007
dc.identifier.eissn1530-0366
dc.identifier.issn1098-3600
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/53031
dc.language.isoeng
dc.publisherELSEVIER SCIENCE INCeng
dc.relation.ispartofGenetics in Medicine
dc.rightsrestrictedAccesseng
dc.rights.holderCopyright ELSEVIER SCIENCE INCeng
dc.subjectCerebellar atrophyeng
dc.subjectCerebellar hypoplasiaeng
dc.subjectDisease-causing variantseng
dc.subjectExomeeng
dc.subjectTreatmenteng
dc.subject.otherjoint consensus recommendationeng
dc.subject.otherdifferential-diagnosiseng
dc.subject.othermedical geneticseng
dc.subject.otheramerican-collegeeng
dc.subject.othermutationseng
dc.subject.otherataxiaeng
dc.subject.otherstandardseng
dc.subject.othervariantseng
dc.subject.othergenomicseng
dc.subject.wosGenetics & Heredityeng
dc.titleGenetic and clinical landscape of childhood cerebellar hypoplasia and atrophyeng
dc.typearticleeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.affiliation.countryJapão
hcfmusp.affiliation.countryTurquia
hcfmusp.affiliation.countryMalásia
hcfmusp.affiliation.countryisojp
hcfmusp.affiliation.countryisotr
hcfmusp.affiliation.countryisomy
hcfmusp.author.externalSAKAMOTO, Masamune:Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan; Yokohama City Univ, Grad Sch Med, Dept Pediat, Yokohama, Kanagawa, Japan
hcfmusp.author.externalIWAMA, Kazuhiro:Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan; Yokohama City Univ, Grad Sch Med, Dept Pediat, Yokohama, Kanagawa, Japan
hcfmusp.author.externalSASAKI, Masayuki:Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Dept Child Neurol, Tokyo, Japan
hcfmusp.author.externalISHIYAMA, Akihiko:Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Dept Child Neurol, Tokyo, Japan
hcfmusp.author.externalKOMAKI, Hirofumi:Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Dept Child Neurol, Tokyo, Japan
hcfmusp.author.externalSAITO, Takashi:Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Dept Child Neurol, Tokyo, Japan
hcfmusp.author.externalTAKESHITA, Eri:Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Dept Child Neurol, Tokyo, Japan
hcfmusp.author.externalSHIMIZU-MOTOHASHI, Yuko:Natl Ctr Hosp, Natl Ctr Neurol & Psychiat, Dept Child Neurol, Tokyo, Japan
hcfmusp.author.externalHAGINOYA, Kazuhiro:Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi, Japan
hcfmusp.author.externalKOBAYASHI, Tomoko:Tohoku Univ, Tohoku Univ Hosp, Dept Pediat, Sendai, Miyagi, Japan; Tohoku Univ, Tohoku Med Megabank Org, Sendai, Miyagi, Japan
hcfmusp.author.externalGOTO, Tomohide:Kanagawa Childrens Med Ctr, Dept Neurol, Yokohama, Kanagawa, Japan
hcfmusp.author.externalTSUYUSAKI, Yu:Kanagawa Childrens Med Ctr, Dept Neurol, Yokohama, Kanagawa, Japan
hcfmusp.author.externalIAI, Mizue:Kanagawa Childrens Med Ctr, Dept Neurol, Yokohama, Kanagawa, Japan
hcfmusp.author.externalKUROSAWA, Kenji:Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan
hcfmusp.author.externalOSAKA, Hitoshi:Kanagawa Childrens Med Ctr, Dept Neurol, Yokohama, Kanagawa, Japan; Jichi Med Univ, Dept Pediat, Shimotsuke, Tochigi, Japan
hcfmusp.author.externalTOHYAMA, Jun:NHO Nishiniigata Chuo Hosp, Dept Child Neurol, Niigata, Japan
hcfmusp.author.externalKOBAYASHI, Yu:NHO Nishiniigata Chuo Hosp, Dept Child Neurol, Niigata, Japan
hcfmusp.author.externalOKAMOTO, Nobuhiko:Osaka Womens & Childrens Hosp, Dept Med Genet, Izumi, Japan
hcfmusp.author.externalSUZUKI, Yume:Jichi Med Univ, Dept Pediat, Shimotsuke, Tochigi, Japan
hcfmusp.author.externalKUMADA, Satoko:Tokyo Metropolitan Neurol Hosp, Dept Neuropediat, Tokyo, Japan
hcfmusp.author.externalINOUE, Kenji:Tokyo Metropolitan Neurol Hosp, Dept Neuropediat, Tokyo, Japan
hcfmusp.author.externalMASHIMO, Hideaki:Tokyo Metropolitan Neurol Hosp, Dept Neuropediat, Tokyo, Japan
hcfmusp.author.externalARISAKA, Atsuko:Tokyo Metropolitan Neurol Hosp, Dept Neuropediat, Tokyo, Japan
hcfmusp.author.externalKUKI, Ichiro:Osaka City Gen Hosp, Childrens Med Ctr, Dept Pediat Neurol, Osaka, Japan
hcfmusp.author.externalSAIJO, Harumi:Tokyo Metropolitan Higashiyamato Med Ctr Dev Mult, Dept Pediat, Tokyo, Japan
hcfmusp.author.externalYOKOCHI, Kenji:Seirei Mikatahara Gen Hosp, Dept Pediat Neurol, Hamamatsu, Shizuoka, Japan
hcfmusp.author.externalKATO, Mitsuhiro:Showa Univ, Sch Med, Dept Pediat, Tokyo, Japan
hcfmusp.author.externalINABA, Yuji:Nagano Childrens Hosp, Div Neurol, Azumino, Nagano, Japan
hcfmusp.author.externalGOMI, Yuko:Nagano Childrens Hosp, Div Rehabil, Azumino, Nagano, Japan
hcfmusp.author.externalSAITOH, Shinji:Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, Japan
hcfmusp.author.externalSHIRAI, Kentaro:Tsuchiura Kyodo Gen Hosp, Dept Pediat, Ibaraki, Japan
hcfmusp.author.externalMORIMOTO, Masafumi:Kyoto Prefectural Univ Med, Dept Pediat, Kyoto, Japan
hcfmusp.author.externalIZUMI, Yuishin:Tokushima Univ, Grad Sch, Inst Biomed Sci, Dept Clin Neurosci, Tokushima, Japan
hcfmusp.author.externalWATANABE, Yoriko:Kurume Univ, Sch Med, Dept Pediat & Child Hlth, Kurume, Fukuoka, Japan
hcfmusp.author.externalNAGAMITSU, Shin-ichiro:Fukuoka Univ, Fac Med, Dept Pediat, Fukuoka, Japan
hcfmusp.author.externalSAKAI, Yasunari:Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka, Japan
hcfmusp.author.externalFUKUMURA, Shinobu:Sapporo Med Univ, Sch Med, Dept Pediat, Sapporo, Hokkaido, Japan
hcfmusp.author.externalMURAMATSU, Kazuhiro:Gunma Univ, Grad Sch Med, Dept Pediat, Gunma, Japan
hcfmusp.author.externalOGATA, Tomomi:Gunma Univ, Grad Sch Med, Dept Pediat, Gunma, Japan
hcfmusp.author.externalYAMADA, Keitaro:Aichi Dev Disabil Ctr Cent Hosp, Dept Pediat Neurol, Kasugai, Aichi, Japan
hcfmusp.author.externalISHIGAKI, Keiko:Tokyo Womens Med Univ, Sch Med, Dept Pediat, Tokyo, Japan
hcfmusp.author.externalHIRASAWA, Kyoko:Tokyo Womens Med Univ, Sch Med, Dept Pediat, Tokyo, Japan
hcfmusp.author.externalSHIMODA, Konomi:Univ Tokyo, Grad Sch Med, Dept Pediat, Tokyo, Japan
hcfmusp.author.externalAKASAKA, Manami:Iwate Med Univ, Sch Med, Dept Pediat, Morioka, Iwate, Japan
hcfmusp.author.externalKOHASHI, Kosuke:Matsudo City Gen Hosp, Dept Pediat, Matsudo, Chiba, Japan
hcfmusp.author.externalSAKAKIBARA, Takafumi:Nara Med Univ, Dept Pediat, Nara, Japan
hcfmusp.author.externalIKUNO, Masashi:Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto, Japan
hcfmusp.author.externalSUGINO, Noriko:Natl Hosp Org, Mie Chuo Med Ctr, Dept Neonatol, Tsu, Mie, Japan
hcfmusp.author.externalYONEKAWA, Takahiro:Mie Univ, Sch Med, Dept Pediat, Tsu, Mie, Japan
hcfmusp.author.externalGURSOY, Semra:SBU Dr Behcet Uz Childrens Educ & Res Hosp, Dept Pediat Genet, Izmir, Turkey
hcfmusp.author.externalCINLETI, Tayfun:Dokuz Eylul Univ, Fac Med, Dept Pediat Genet, Izmir, Turkey
hcfmusp.author.externalTEIK, Keng Wee:Hosp Kuala Lumpur, Dept Genet, Kuala Lumpur, Malaysia
hcfmusp.author.externalYAN, Chan Mei:Hosp Kuala Lumpur, Dept Genet, Kuala Lumpur, Malaysia
hcfmusp.author.externalHANIFFA, Muzhirah:Hosp Kuala Lumpur, Dept Genet, Kuala Lumpur, Malaysia
hcfmusp.author.externalOHBA, Chihiro:Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan
hcfmusp.author.externalITO, Shuuichi:Yokohama City Univ, Grad Sch Med, Dept Pediat, Yokohama, Kanagawa, Japan
hcfmusp.author.externalSAITSU, Hirotomo:Hamamatsu Univ, Sch Med, Dept Biochem, Hamamatsu, Shizuoka, Japan
hcfmusp.author.externalSAIDA, Ken:Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan
hcfmusp.author.externalTSUCHIDA, Naomi:Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan; Yokohama City Univ Med, Dept Rare Dis Genom, Yokohama, Kanagawa, Japan
hcfmusp.author.externalUCHIYAMA, Yuri:Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan; Yokohama City Univ Med, Dept Rare Dis Genom, Yokohama, Kanagawa, Japan
hcfmusp.author.externalKOSHIMIZU, Eriko:Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan
hcfmusp.author.externalFUJITA, Atsushi:Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan
hcfmusp.author.externalHAMANAKA, Kohei:Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan
hcfmusp.author.externalMISAWA, Kazuharu:Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan; RIKEN Ctr Adv Intelligence Project, Tokyo, Japan
hcfmusp.author.externalMIYATAKE, Satoko:Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan; Yokohama City Univ Med, Dept Clin Genet, Yokohama, Kanagawa, Japan
hcfmusp.author.externalMIZUGUCHI, Takeshi:Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan
hcfmusp.author.externalMIYAKE, Noriko:Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan; Natl Ctr Global Hlth & Med, Res Inst, Dept Human Genet, Tokyo, Japan
hcfmusp.author.externalMATSUMOTO, Naomichi:Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan
hcfmusp.citation.scopus1
hcfmusp.contributor.author-fmusphcCHONG AE KIM
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hcfmusp.description.issue12
hcfmusp.description.volume24
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hcfmusp.origem.pubmed36305856
hcfmusp.origem.scopus2-s2.0-85142443091
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hcfmusp.publisher.cityNEW YORKeng
hcfmusp.publisher.countryUSAeng
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