六例肉碱棕榈酰基转移酶2缺乏症患儿临床特征及基因变异分析
R725.8; 目的:探讨肉碱棕榈酰基转移酶2(CPT2)缺乏症患儿的临床表型及基因变异特点.方法:回顾性分析6例CPT2缺乏症患儿的临床和基因检测资料,采用串联质谱法检测血酰基肉碱水平,全外显子基因测序法检测基因变异.结果:6例CPT2缺乏症患儿中男性4例、女性2例,平均确诊年龄为32个月(15 d～9岁).其中1例无临床症状及实验室检查异常、2例迟发型、3例婴儿型.3例由新生儿筛查确诊;3例因临床表现就诊,起病时有发热、肌肉乏力伴肌酶增高.5例患儿表现为游离肉碱降低,棕榈酰基肉碱、十八碳烯酰肉碱升高.6例患儿检测到CPT2基因变异8个位点(携带双位点突变4例,携带单位点突变2例),3种为已...
Saved in:
| Published in | 浙江大学学报（医学版） Vol. 53; no. 2; pp. 207 - 212 |
|---|---|
| Main Authors | , , , , , , |
| Format | Journal Article |
| Language | Chinese |
| Published |
杭州市儿童医院内分泌科,浙江 杭州 310005%上海交通大学附属新华医院 上海市儿科医学研究所小儿内分泌遗传代谢科,上海 200092
25.04.2024
|
| Subjects | |
| Online Access | Get full text |
| ISSN | 1008-9292 |
| DOI | 10.3724/zdxbyxb-2023-0611 |
Cover
| Abstract | R725.8; 目的:探讨肉碱棕榈酰基转移酶2(CPT2)缺乏症患儿的临床表型及基因变异特点.方法:回顾性分析6例CPT2缺乏症患儿的临床和基因检测资料,采用串联质谱法检测血酰基肉碱水平,全外显子基因测序法检测基因变异.结果:6例CPT2缺乏症患儿中男性4例、女性2例,平均确诊年龄为32个月(15 d～9岁).其中1例无临床症状及实验室检查异常、2例迟发型、3例婴儿型.3例由新生儿筛查确诊;3例因临床表现就诊,起病时有发热、肌肉乏力伴肌酶增高.5例患儿表现为游离肉碱降低,棕榈酰基肉碱、十八碳烯酰肉碱升高.6例患儿检测到CPT2基因变异8个位点(携带双位点突变4例,携带单位点突变2例),3种为已知变异(p.R631C、p.T589M和p.D255G),5种为新报道变异(p.F352L、p.R498L、p.F434S、p.A515P、c.153-2A>G).经PolyPhen2和SIFT软件预测,5个新报道变异中c.153-2A>G和p.F352L为疑似致病变异,p.R498L、p.F434S和p.A515P为临床意义未明变异.结论:CPT2缺乏症临床表型多样,通过新生儿血串联质谱筛查及基因检测有助于早期诊断,确诊后及时治疗大多预后良好. |
|---|---|
| AbstractList | R725.8; 目的:探讨肉碱棕榈酰基转移酶2(CPT2)缺乏症患儿的临床表型及基因变异特点.方法:回顾性分析6例CPT2缺乏症患儿的临床和基因检测资料,采用串联质谱法检测血酰基肉碱水平,全外显子基因测序法检测基因变异.结果:6例CPT2缺乏症患儿中男性4例、女性2例,平均确诊年龄为32个月(15 d～9岁).其中1例无临床症状及实验室检查异常、2例迟发型、3例婴儿型.3例由新生儿筛查确诊;3例因临床表现就诊,起病时有发热、肌肉乏力伴肌酶增高.5例患儿表现为游离肉碱降低,棕榈酰基肉碱、十八碳烯酰肉碱升高.6例患儿检测到CPT2基因变异8个位点(携带双位点突变4例,携带单位点突变2例),3种为已知变异(p.R631C、p.T589M和p.D255G),5种为新报道变异(p.F352L、p.R498L、p.F434S、p.A515P、c.153-2A>G).经PolyPhen2和SIFT软件预测,5个新报道变异中c.153-2A>G和p.F352L为疑似致病变异,p.R498L、p.F434S和p.A515P为临床意义未明变异.结论:CPT2缺乏症临床表型多样,通过新生儿血串联质谱筛查及基因检测有助于早期诊断,确诊后及时治疗大多预后良好. |
| Abstract_FL | Objective:To investigate the clinical characteristic and genetic variants of children with carnitine palmitoyltransferase 2(CPT2)deficiency.Methods:The clinical and genetic data of 6 children with CPT2 deficiency were retrospectively analyzed.The blood acylcarnitines and genetic variants were detected with tandem mass spectrometry and whole-exon gene sequencing,respectively.Results:There were 4 males and 2 females with a mean age of 32 months(15 d-9 years)at diagnosis.One case was asymptomatic and with normal laboratory test results,2 had delayed onset,and 3 were of infantile type.Three cases were diagnosed at neonatal screening,and 3 cases presented with clinical manifestations of fever,muscle weakness,and increased muscle enzymes.Five children presented with decreased free carnitine and elevated levels of palmitoyl and octadecenoyl carnitines.CPT2 gene variants were detected at 8 loci in 6 children(4 harboring biallelic mutations and 2 harboring single locus mutations),including 3 known variants(p.R631C,p.T589M,and p.D255G)and 5 newly reported variants(p.F352L,p.R498L,p.F434S,p.A515P,and c.153-2A>G).It was predicted by PolyPhen2 and SIFT software that c.153-2A>G and p.F352L were suspected pathogenic variants,while p.R498L,p.F434S and p.A515P were variants of unknown clinical significance.Conclusions:The clinical phenotypes of CPT2 deficiency are diverse.An early diagnosis can be facilitated by neonatal blood tandem mass spectrometry screening and genetic testing,and most patients have good prognosis after a timely diagnosis and treatment. |
| Author | 徐烽 邱文娟 顾学范 张惠文 韩连书 张彦 陈婷 |
| AuthorAffiliation | 杭州市儿童医院内分泌科,浙江 杭州 310005%上海交通大学附属新华医院 上海市儿科医学研究所小儿内分泌遗传代谢科,上海 200092 |
| AuthorAffiliation_xml | – name: 杭州市儿童医院内分泌科,浙江 杭州 310005%上海交通大学附属新华医院 上海市儿科医学研究所小儿内分泌遗传代谢科,上海 200092 |
| Author_FL | CHEN Ting HAN Lianshu QIU Wenjuan ZHANG Huiwen ZHANG Yan GU Xuefan XU Feng |
| Author_FL_xml | – sequence: 1 fullname: ZHANG Yan – sequence: 2 fullname: QIU Wenjuan – sequence: 3 fullname: ZHANG Huiwen – sequence: 4 fullname: CHEN Ting – sequence: 5 fullname: XU Feng – sequence: 6 fullname: GU Xuefan – sequence: 7 fullname: HAN Lianshu |
| Author_xml | – sequence: 1 fullname: 张彦 – sequence: 2 fullname: 邱文娟 – sequence: 3 fullname: 张惠文 – sequence: 4 fullname: 陈婷 – sequence: 5 fullname: 徐烽 – sequence: 6 fullname: 顾学范 – sequence: 7 fullname: 韩连书 |
| BookMark | eNotkMtKw0AYhWdRwVr7AD6DRP9_JtelFG9QEETXIZOLWCQFgxi7M1ht6yJuREFQsaAbBQURG2t9mUzSvoUB5SzO5vAd-GZIyW_6LiFzCAtMo_Jiywn5UcglCpRJoCKWSBkBdMmgBp0m1SDY5aAg04pAmWyK9ks6Oh9H3fzhLetfZo-dSftV3CXj7-f86WvS_qD5MEkHcX51lkV9cfKTfr6LpJd3B2J0LOJeMRU39yK-FsNIdE6z24tZMuVZe4Fb_e8K2V5Z3qqtSfWN1fXaUl0KEFRFclxErqHNNM-ilCk2VS3GDI8DomXYjo6Uc3B1hXuAOgeDgUc1m9u6IcvIZFYh83_cQ8v3LH_HbDQP9v3i0Ww1nDDkZqGhsCADBVTYL_2Lcm0 |
| ClassificationCodes | R725.8 |
| ContentType | Journal Article |
| Copyright | Copyright © Wanfang Data Co. Ltd. All Rights Reserved. |
| Copyright_xml | – notice: Copyright © Wanfang Data Co. Ltd. All Rights Reserved. |
| DBID | 2B. 4A8 92I 93N PSX TCJ |
| DOI | 10.3724/zdxbyxb-2023-0611 |
| DatabaseName | Wanfang Data Journals - Hong Kong WANFANG Data Centre Wanfang Data Journals 万方数据期刊 - 香港版 China Online Journals (COJ) China Online Journals (COJ) |
| DatabaseTitleList | |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine |
| DocumentTitle_FL | Clinical characteristics and genetic analysis of six children with carnitine palmitoyltransferase 2 deficiency |
| EndPage | 212 |
| ExternalDocumentID | zjdxxb_yxb202402015 |
| GroupedDBID | 2B. 4A8 92I 93N ALMA_UNASSIGNED_HOLDINGS PSX RPM TCJ |
| ID | FETCH-LOGICAL-s1065-de11b71c37fa2235c26a339fb011a9cd812bb0e85bf018b0930f27cbc89441343 |
| ISSN | 1008-9292 |
| IngestDate | Thu May 29 04:07:21 EDT 2025 |
| IsPeerReviewed | false |
| IsScholarly | true |
| Issue | 2 |
| Keywords | Carnitine palmitoyltransferase 2 deficiency Tandem mass spectrometry 串联质谱技术 Clinical features CPT2 gene Case report 临床特征 病例报告 游离肉碱 Free carnitine 肉碱棕榈酰基转移酶2缺乏症 CPT2基因 |
| Language | Chinese |
| LinkModel | OpenURL |
| MergedId | FETCHMERGED-LOGICAL-s1065-de11b71c37fa2235c26a339fb011a9cd812bb0e85bf018b0930f27cbc89441343 |
| PageCount | 6 |
| ParticipantIDs | wanfang_journals_zjdxxb_yxb202402015 |
| PublicationCentury | 2000 |
| PublicationDate | 2024-04-25 |
| PublicationDateYYYYMMDD | 2024-04-25 |
| PublicationDate_xml | – month: 04 year: 2024 text: 2024-04-25 day: 25 |
| PublicationDecade | 2020 |
| PublicationTitle | 浙江大学学报（医学版） |
| PublicationTitle_FL | Journal of Zhejiang University(Medical Sciences) |
| PublicationYear | 2024 |
| Publisher | 杭州市儿童医院内分泌科,浙江 杭州 310005%上海交通大学附属新华医院 上海市儿科医学研究所小儿内分泌遗传代谢科,上海 200092 |
| Publisher_xml | – name: 杭州市儿童医院内分泌科,浙江 杭州 310005%上海交通大学附属新华医院 上海市儿科医学研究所小儿内分泌遗传代谢科,上海 200092 |
| SSID | ssib051373730 ssib002263662 ssib009993744 ssib056826211 ssib058720545 ssib006576290 ssib006704889 ssj0002507821 ssib006562844 ssib002039758 ssib008143987 ssib008679799 ssib001051301 ssib001104240 |
| Score | 2.373361 |
| Snippet | R725.8; 目的:探讨肉碱棕榈酰基转移酶2(CPT2)缺乏症患儿的临床表型及基因变异特点.方法:回顾性分析6例CPT2缺乏症患儿的临床和基因检测资料,采用串联质谱法检测血酰基肉碱水平,全外显子基因测序法检测基因变异.结果:6例CPT2缺乏症患儿中男性4例、女性2例,平均确诊年龄为32个月(15... |
| SourceID | wanfang |
| SourceType | Aggregation Database |
| StartPage | 207 |
| Title | 六例肉碱棕榈酰基转移酶2缺乏症患儿临床特征及基因变异分析 |
| URI | https://d.wanfangdata.com.cn/periodical/zjdxxb-yxb202402015 |
| Volume | 53 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnR1dSxVBdJGE6CX6pE_xwXmSW7uzHzPzuHvdiwT2EAq-yX7cLXowSAXzIUiy1B7sJQqCioR6KSiISDP7M65X_0XnnFnvHfUSFhcuc8-c7zM7e87c2VnLGhCOUoUPZaqv8qzm-TmvKZ5DlZIURZbSmVW4NDByMxge826M--M9vYGxa2lmOr2WzXV9ruR_ogowiCs-JfsPkW0zBQC0Ib7wDRGG7yPFmMU-kz4Lh1jssShmMmKxZJIzqVgsWMhZ5LA4YKHLlE-NgEnJYoVUkY3kqsGiEKmiIRbWiUqwKNrDCTiCojohgQyANhCiBJMCOYIw4I56QG-DcICXhxAgkSEigzZAiBBQ0SHkBnW1xUMjYqFddSlJyHVkjhAwKUBZKmb6pZ972TQCI6BV1HCQG-CHHtoQk1_A4E4jQKEhOKJBzEmKrJO1bRzSFrs0TnuZpNJI64i-Cjo9ChXVnlYB-QXYSdCmCzH0u1WDcE0uSlVKheAwYa7HcNrGo5_dpiuI6Ico8sBaoGuwIfdcpoMBwYzI4LadJCTUOAFG2PRv5CKaHgIK7nD1w_4dPCx4kP688Rn3q-hjZIkOuhESYkTQSTZTYbcAacv1mHHIFHKOHqByiMn4sAWD3YR19QDZ0jXSEAblUQP8rccHaRnTxSEbBp-_uEvhmFbaVB1jDwXhVSGRT8j3u_Sg2niop62M1Xc8CAumMrUvfdBnXVfTJDdzAf065yqt5PppgYMZiyu4B9PMXD6bPphNYXbj9LIVp5OetTfNzt3NZ2fTCUDDYQdlHp6t0cuFoO0pIw9jY5nHh9TUPNYRNzgYab4NVYixGwJKMDcwjg2FGg-yVs_4DSmT8W96IPC-3ymDJBRdyijz8BBPc7eAwiKoww-UE_Bp8_MDyQPeyTN8KThUkn57rRzKNChkaO1sLwJ6gwp67_oh39Hzl5NFMnnbKBVGT1knqxq_P9QT9mmrZ-7OGev4SLWL6ax1q1z4vLX5bGd-qfX-6_bqi-0Pi7sLX8q36zu_PrU-_txd-M5bG-tbayutl0-351fLx7-3fnwr15dbS2vl5qNyZRlQy9fvypVX5cZ8ufhk-83zc9ZYIx6tD9eqd9vUphzwZy1vOk4qnMwVRQIVmp_xIHFdVaQQrERlOdRdaWo3pZ8WtiNTW7l2wUWWZlJBAet67nnr2OS9yeYFq9_JsyQvRNLMmo6XpAFkrIUjvKYUmS1FIi9aA5U7Jqp719REl7F06Whol60TnVnvinVs-v5M8yrUZdNpH61n9tFQ_ANvvCAy |
| linkProvider | ISSN International Centre |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=%E5%85%AD%E4%BE%8B%E8%82%89%E7%A2%B1%E6%A3%95%E6%A6%88%E9%85%B0%E5%9F%BA%E8%BD%AC%E7%A7%BB%E9%85%B62%E7%BC%BA%E4%B9%8F%E7%97%87%E6%82%A3%E5%84%BF%E4%B8%B4%E5%BA%8A%E7%89%B9%E5%BE%81%E5%8F%8A%E5%9F%BA%E5%9B%A0%E5%8F%98%E5%BC%82%E5%88%86%E6%9E%90&rft.jtitle=%E6%B5%99%E6%B1%9F%E5%A4%A7%E5%AD%A6%E5%AD%A6%E6%8A%A5%EF%BC%88%E5%8C%BB%E5%AD%A6%E7%89%88%EF%BC%89&rft.au=%E5%BC%A0%E5%BD%A6&rft.au=%E9%82%B1%E6%96%87%E5%A8%9F&rft.au=%E5%BC%A0%E6%83%A0%E6%96%87&rft.au=%E9%99%88%E5%A9%B7&rft.date=2024-04-25&rft.pub=%E6%9D%AD%E5%B7%9E%E5%B8%82%E5%84%BF%E7%AB%A5%E5%8C%BB%E9%99%A2%E5%86%85%E5%88%86%E6%B3%8C%E7%A7%91%2C%E6%B5%99%E6%B1%9F+%E6%9D%AD%E5%B7%9E+310005%25%E4%B8%8A%E6%B5%B7%E4%BA%A4%E9%80%9A%E5%A4%A7%E5%AD%A6%E9%99%84%E5%B1%9E%E6%96%B0%E5%8D%8E%E5%8C%BB%E9%99%A2+%E4%B8%8A%E6%B5%B7%E5%B8%82%E5%84%BF%E7%A7%91%E5%8C%BB%E5%AD%A6%E7%A0%94%E7%A9%B6%E6%89%80%E5%B0%8F%E5%84%BF%E5%86%85%E5%88%86%E6%B3%8C%E9%81%97%E4%BC%A0%E4%BB%A3%E8%B0%A2%E7%A7%91%2C%E4%B8%8A%E6%B5%B7+200092&rft.issn=1008-9292&rft.volume=53&rft.issue=2&rft.spage=207&rft.epage=212&rft_id=info:doi/10.3724%2Fzdxbyxb-2023-0611&rft.externalDocID=zjdxxb_yxb202402015 |
| thumbnail_s | http://utb.summon.serialssolutions.com/2.0.0/image/custom?url=http%3A%2F%2Fwww.wanfangdata.com.cn%2Fimages%2FPeriodicalImages%2Fzjdxxb-yxb%2Fzjdxxb-yxb.jpg |