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ENGLISH ABSTRACT
单纯17q25.3拷贝数重复导致全面性发育迟缓和多发性先天异常一例
王清明
李巧仪
徐秋红
刘彦慧
袁海明
作者及单位信息
·
DOI： 10.3760/cma.j.issn.1003-9406.2020.01.014
Identification of a 17q25.3 duplication in a Chinese patient with global developmental delay and multiple congenital anomalies
Wang Qingming
Li Qiaoyi
Xu Qiuhong
Liu Yanhui
Yuan Haiming
Authors Info & Affiliations
Wang Qingming
Dongguan Maternal and Child Health Care Hospital, Dongguan Institute of Reproductive and Genetic Research, Dongguan, Guangdong 523120, China
Li Qiaoyi
Xu Qiuhong
Liu Yanhui
Yuan Haiming
·
DOI： 10.3760/cma.j.issn.1003-9406.2020.01.014
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摘要

目的探讨单纯17q25.3拷贝数重复的临床特征、遗传方式及基因型与表型的关系。

方法应用全外显子测序、染色体微阵列、染色体核型分析、荧光原位杂交技术联合对先证者及其家系成员进行分析。

结果先证者为一例4岁的多发性先天异常男性患儿，表现为全面性发育迟缓、矮小、智力障碍、脑发育不良、小头、特殊面容、肌张力低下、注意力缺陷多动障碍、共济失调、骨骼和心血管异常等。全外显子测序和染色体微阵列分析鉴定其在染色体17q25.3→qter发生5.7 Mb拷贝数重复，可能为患儿致病的原因。荧光原位杂交证实先证者该拷贝数重复是遗传自携带该片段平衡易位的母亲，其外祖母和舅舅也为该片段平衡易位携带者，而小姨未见异常。

结论本研究结果丰富了单纯17q25.3拷贝数重复的临床表型谱，为遗传咨询提供了依据，并初步提示了 P4HB、ACTG1、BAIAP2及 TBCD基因为17q25.3拷贝数重复候选基因。

单纯17q25.3拷贝数重复;全面性发育迟缓;骨骼系统异常;遗传咨询
ABSTRACT

ObjectiveTo delineate the clinical features, inheritance pattern, and genotype-phenotype correlation of a Chinese patient with a 17q25.3 duplication.

MethodsWhole exome sequencing(WES), chromosomal microarray analysis (CMA), chromosomal karyotyping and fluorescence in situ hybridization(FISH) were employed for the analysis of the proband and his family members.

ResultsA 5.7 Mb duplication at 17q25.3→qter was identified by WES and CMA in the 4-year-old boy with multiple congenital anomalies, which was classified as a clinically pathogenic variant. This duplication was confirmed by FISH, and was inherited from his unaffected mother who carried a balanced translocation. Further study revealed that his grandmother also carried the balanced translocation but had gestated three healthy children and had no abortion history. His uncle also carried the balanced translocation, while his aunt was normal.

ConclusionAbove results have enriched the clinical phenotypes of 17q25.3 duplication. Genetic counseling was provided for the family. P4HB, ACTG1, BAIAP2 and TBCD genes may underlie the clinical features for the 17q25.3 duplication.

17q25.3 duplication;Global developmental delay;Skeletal system abnormality;Genetic counseling
Yuan Haiming, Email: nc.defanabisnauygnimiah
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引用本文

王清明,李巧仪,徐秋红,等. 单纯17q25.3拷贝数重复导致全面性发育迟缓和多发性先天异常一例[J]. 中华医学遗传学杂志,2020,37(1)：52-56.

DOI:10.3760/cma.j.issn.1003-9406.2020.01.014

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染色体17q部分重复迄今仅报道约30余例。大多数重复涉及17q (17q23→qter)远端三分之一，其断点从17q21到17q25.3不等，主要临床表型为发育迟缓、智力障碍、颅面部畸形、骨骼系统发育不良和先天性心脏病等 [ 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 ]。既往文献报道多见17q末端重复伴随另一条染色体末端的缺失。由于染色体缺失片段表型的干扰，很难观察到单纯17q拷贝数重复的临床表型 [ 1 , 2 , 3 , 4 , 5 , 6 ]。到目前为止单纯17q25.3拷贝数重复的文献报道仅有3例 [ 11 , 12 , 13 ]。因此需要更多病例研究以完善其临床表型谱，建立基因型与表型的联系，并为该区域拷贝数重复的遗传咨询提供指导。在本研究中，我们对1例多发性先天异常的男性患儿通过全外显子测序(whole exome sequencing, WES)、染色体微阵列(chromosomal microarray analysis, CMA)、核型分析及荧光原位杂交(fluorescence in situ hybridization, FISH)遗传学检测，揭示其为单纯17q25.3拷贝数重复，报告如下。
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参考文献
[1]
Coton J , Labalme A , Till M ,et al. Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q；21q) unbalanced translocations[J]．Clin Case Rep, 2018,6(5)：827-834. DOI: 10.1002/ccr3.1450 .
返回引文位置Google Scholar
百度学术
万方数据
[2]
林少宾，张志强，吴坚柱，等．一例1q部分单体并17q部位三体胎儿的遗传学分析[J]．中华医学遗传学杂志， 2016,33(3)：340-343. DOI: 10.3760/cma.j.issn.1003-9406.2016.03.014 .
返回引文位置Google Scholar
百度学术
万方数据
Lin SB , Zhang ZQ , Wu JZ ,et al. Genetic analysis of a fetus with partial 1q monosomy and partial 17q trisomy[J]. Chin J Med Genet, 2016,33(3)：340-343. DOI: 10.3760/cma.j.issn.1003-9406.2016.03.014 .
Goto CitationGoogle Scholar
Baidu Scholar
Wanfang Data
[3]
Marques F , Heredia R , de Oliveira C ,et al. Partial trisomy 17q and partial monosomy 20q in a boy with craniosynostosis[J]．Am J Med Genet A, 2015,167A(2)：412-416. DOI: 10.1002/ajmg.a.36844 .
返回引文位置Google Scholar
百度学术
万方数据
[4]
Czakó M , Riegel M , Morava E ,et al. Opitz " C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partialduplication of 17q[J]．Am J Med Genet A, 2004,131(3)：310-312. DOI: 10.1002/ajmg.a.30249 .
返回引文位置Google Scholar
百度学术
万方数据
[5]
Sarri C , Gyftodimou J , Avramopoulos D ,et al. Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter [J]. Am J Med Genet, 1997,70(1)：87-94.
返回引文位置Google Scholar
百度学术
万方数据
[6]
Caine A , Knapton DM , Mueller RF ,et al. Duplication of distal 17q from a maternal translocation: an additional case with some unique features[J]．J Med Genet, 1989,26(9)：577-579. DOI: 10.1136/jmg.26.9.577 .
返回引文位置Google Scholar
百度学术
万方数据
[7]
Kelly BD , Becker K , Kermode V ,et al. Dysmorphic features and learning disability in an adult male with pure partial trisomy 17q24-q25 due to a terminal duplication[J]. Am J Med Genet, 2002,112(2)：217-220. DOI: 10.1002/ajmg.10626 .
返回引文位置Google Scholar
百度学术
万方数据
[8]
Serotkin A , Stamberg J , Waber L . Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome[J]. J Med Genet, 1988,25(4)：258-260. DOI: 10.1136/jmg.25.4.258 .
返回引文位置Google Scholar
百度学术
万方数据
[9]
Shimizu T , Ikeuchi T , Shinohara T ,et al. Distal trisomy of chromosome 17q due to inverted tandem duplication[J]. Clin Genet, 1988,33(4)：311-314.
返回引文位置Google Scholar
百度学术
万方数据
[10]
Orye E , Van Bever H . De novo distal trisomy 17q[J]. Ann Genet, 1985,28(1)：61-62.
返回引文位置Google Scholar
百度学术
万方数据
[11]
Lukusa T , Fryns JP . Pure de novo 17q25.3 micro duplication characterized by micro array CGH in a dysmorphic infant with growth retardation, developmental delay and distal arthrogryposis [J]. Genet Couns, 2010,21(1)：25-34.
返回引文位置Google Scholar
百度学术
万方数据
[12]
Probst FJ , James RA , Burrage LC ,et al. De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations [J]. Orphanet J Rare Dis, 2015,10：75. DOI: 10.1186/s13023-015-0291-0 .
返回引文位置Google Scholar
百度学术
万方数据
[13]
Hackmann K , Stadler A , Schallner J ,et al. Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3[J]. Am J Med Genet A, 2013,161A(12)：3144-3149. DOI: 10.1002/ajmg.a.36155 .
返回引文位置Google Scholar
百度学术
万方数据
[14]
Madan K ．Balanced complex chromosome rearrangements: reproductive aspects. a review[J]．Am J Med Genet A, 2012,158A(4)：947-963. DOI: 10.1002/ajmg.a.35220 .
返回引文位置Google Scholar
百度学术
万方数据
[15]
Rauch F , Fahiminiya S , Majewski J ,et al. Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB[J]. Am J Hum Genet, 2015，96(3)：425-431. DOI: 10.1016/j.ajhg.2014.12.027 .
返回引文位置Google Scholar
百度学术
万方数据
[16]
Verloes A , Di Donato N , Masliah-Planchon J ,et al. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases[J]. Eur J Hum Genet, 2015,23(3)：292-301. DOI: 10.1038/ejhg.2014.95 .
返回引文位置Google Scholar
百度学术
万方数据
[17]
Okamura-Oho Y , Miyashita T , Ohmi K ,et al. Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate[J]. Hum Mol Genet, 1999,8(6)：947-957. DOI: 10.1093/hmg/8.6.947 .
返回引文位置Google Scholar
百度学术
万方数据
[18]
Carroll LS , Massey TH , Wardle M ,et al. Dentatorubral-pallidoluysian Atrophy: An Update[J]．Tremor Other Hyperkinet Mov(NY), 2018,8：577. DOI: 10.7916/D81N9HST .
返回引文位置Google Scholar
百度学术
万方数据
[19]
Liu L , Sun L , Li ZH ,et al. BAIAP2 exhibits association to childhood ADHD especially predominantly inattentive subtype in Chinese Han subjects [J]. Behav Brain Funct, 2013,30(9)：48. DOI: 10.1186/1744-9081-9-48 .
返回引文位置Google Scholar
百度学术
万方数据
[20]
Hasler R , Preti MG , Meskaldji DE ,et al. Inter-hemispherical asymmetry in default-mode functional connectivity and BAIAP2 gene are associated with anger expression in ADHD adults [J]. Psychiatry Res Neuroimaging, 2017,269：54-61. DOI: 10.1016/j.pscychresns.2017.09.004 .
返回引文位置Google Scholar
百度学术
万方数据
[21]
Miyake N , Fukai R , Ohba C ,et al. Biallelic TBCD mutations cause early-onset neurodegenerative encephalopathy[J]. Am J Hum Genet, 2016,99(4)：950-961. DOI: 10.1016/j.ajhg.2016.08.005 .
返回引文位置Google Scholar
百度学术
万方数据
[22]
Martín L , Fanarraga ML , Aloria K ,et al. Tubulin folding cofactor D is a microtubule destabilizing protein[J]. FEBS Lett, 2000,470(1)：93-95.
返回引文位置Google Scholar
百度学术
万方数据
备注信息
A
袁海明，Email: nc.defanabisnauygnimiah
B
所有作者均声明不存在利益冲突
C
东莞市社会科技发展（重点）项目 (201950715007158)
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