首页期刊导航|中华医学遗传学杂志
期刊信息/Journal information
中华医学遗传学杂志
四川大学
中华医学遗传学杂志

四川大学

张思仲

双月刊

1003-9406

cjmg@cma.org.cn

028-85501165

610041

四川省成都市人民南路三段17号(四川大学华西校区)

中华医学遗传学杂志/Journal Chinese Journal of Medical GeneticsCSCD北大核心CSTPCD
查看更多>>中华医学会主办，四川大学承办。本刊以报道我国医学遗传学、人类遗传学和相关领域的基础理论、技术方法等最新研究成果；以从事医学遗传学工作的各科临床医生、计划生育工作者、大专院校和科研单位有关人员为主要读者对象。设有述评、论著、技术与方法、综述、调查报告、遗传咨询、临床细胞遗传学、病例报告等栏目。 从1998年以来被美国《医学索引》（IM）、《化学文摘》（CA）、《工程索引》（EI）、ISI数据库的Biological Abstracts及BIOSIS Previews，波兰《哥白尼索引》（IC）,荷兰《医学文摘》（EM）和俄罗斯《文摘杂志》（AJ）等国际著名检索系统收录。
正式出版
收录年代

    行为异常和颅面畸形但不伴癫痫的智力发育障碍患儿1例的遗传学分析

    仝娇王涛王雷雷闫冬梅...
    1546-1550页
    查看更多>>摘要：目的 分析1例行为异常和颅面畸形的智力发育障碍但不伴癫痫(IDDBCS)患儿的临床表型和遗传学特征。 方法 选取2021年4月于连云港市妇幼保健院发育行为儿科就诊的1例患儿为研究对象。收集患儿的临床资料，提取患儿及其家系成员的外周血样基因组DNA，用全外显子组测序(WES)筛选患儿可能携带的致病变异位点，用Sanger测序进行家系验证。 结果 患儿为3岁4月龄男性，临床表现为全面性发育迟缓，头部异常。WES检测发现患儿携带PHF21A基因c.1703delA(p.K568Sfs*9)杂合变异。Sanger测序验证患儿携带该变异，其父母该位点为野生型。该变异为低频变异，可能导致编码蛋白质结构和功能变化，根据美国医学遗传学与基因组学学会(ACMG)指南评估为致病性(PVS1+PS2+PM2_Supporting)。 结论 PHF21A基因c.1703delA(p.K568Sfs*9)杂合变异可能是该IDDBCS患儿的遗传学病因。 Objective To explore the clinical phenotype and genetic characteristics of a child with Intellectual developmental disorder with behavioral abnormalities and craniofacial malformations without epilepsy (IDDBCS). Methods A child who had visited the Lianyungang Maternal and Child Health Care Hospital in April 2021 was selected as the study subject. Clinical data of the child were collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of his family members. Results The child, a 3-year-and-4-month-old male, had presented with global developmental delay and cranial malformation. Genetic testing revealed that he has harbored a heterozygous c. 1703delA (p.K568Sfs9) variant of the PHF21A gene, for which both of his parents were of the wild type. This low-frequency variant may alter the structure and function of the protein product. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), it was classified as a pathogenic variant (PVS1+ PS2+ PM2_Supporting). Conclusion The heterozygous c. 1703delA (p.K568Sfs9) variant of the PHF21A gene probably underlay the IDDBCS in this patient.

    智力发育障碍PHF21A基因杂合变异全外显子组测序

      原文链接:
    • 万方数据

    FLNC变异致扩张型心肌病患者1例的基因检测及临床特征分析

    任燕龙张亚辉张晓萍王月丽...
    1551-1555页
    查看更多>>摘要：目的 对1例扩张型心肌病患者行目标基因测序，明确其致病变异，为临床诊断和遗传咨询提供依据。 方法 选择2022年4月在首都医科大学附属北京安贞医院就诊的1例扩张型心肌病患者作为研究对象，完善患者的临床资料、病史及家族史信息。利用高通量测序技术对患者进行目标基因测序，通过Sanger测序对候选变异进行家系验证。根据美国医学遗传学与基因组学学会(ACMG)相关指南对候选变异进行致病性判定。 结果 高通量测序及Sanger验证均显示患者携带FLNC基因c.5044dupG杂合移码变异。根据ACMG指南判定为疑似致病变异(PVS1+PM2_Supporting+PP4)。 结论 FLNC基因c.5044dupG杂合变异可能是该患者扩张型心肌病的遗传学病因。上述结果为患者及其家族成员的遗传咨询提供了依据。 Objective To explore the genetic basis for a patient with Dilated cardiomyopathy. Methods A patient admitted to Beijing Anzhen Hospital Affiliated to Capital Medical University in April 2022 was selected as the study subject. Clinical data and family history of the patient was collected. Targeted exome sequencing was carried out. Candidate variant was verified by Sanger sequencing and bioinformatic analysis based on guidelines of the American College of Medical Genetics and Genomics (ACMG). Results DNA sequencing revealed that the patient has harbored a heterozygous c. 5044dupG frameshift variant of the FLNC gene. Based on the ACMG guidelines, the variant was predicted to be likely pathogenic (PVS1+ PM2_Supporting+ PP4). Conclusion The heterozygous c. 5044dupG variant of the FLNC gene probably underlay the pathogenesis in this patient, which has provided a basis for genetic counseling for his family.

    扩张型心肌病FLNC基因基因检测

      原文链接:
    • 万方数据

    Pitt-Hopkins综合征患儿1例的 TCF4基因变异分析

    朱淑霞张园园张越华鞠翠钰...
    1556-1559页
    查看更多>>摘要：目的 探讨1例表现为特殊面容、双手通贯掌、运动及语言发育迟缓、胼胝体发育不良的患儿的遗传学病因。 方法 选取2021年3月16日于滨州医学院附属医院就诊的1例PTHS患儿为研究对象。抽取患儿及其父母的外周血样，提取基因组DNA，进行全外显子组测序及生物信息学分析，并运用Sanger测序技术对候选变异进行验证。 结果 全外显子组测序显示患儿TCF4基因存在c.607delT(p.S203Pfs*31)杂合变异，其父母为野生型。根据美国医学遗传学与基因组学学会(ACMG)相关变异分类标准与指南，c.607delT(p.S203Pfs*31)被评判为致病性变异(PVS1+PM2_Supporting+PM6)。 结论 TCF4基因c.607(exon9)delT杂合变异可能是本例患儿的遗传学病因。 Objective To explore the genetic basis for a child featuring facial dysmorphism, single palmar crease, motor and language delay, and hypoplasia of corpus callosum. Methods A child who had visited the Affiliated Hospital of Binzhou Medical College on March 16, 2021 was selected as the study subject. Peripheral blood samples of the child and his parents were collected, and the genomic DNA was extracted for whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing and bioinformatic analysis. Results WES revealed that the child has harbored a heterozygous c. 607delT (p.S203Pfs*31) variant in exon 9 of the TCF4 gene, for which both of his parents were of the wild-type. Based on guidelines from the American College of Medical Genetics and Genomics, the variant was classified as pathogenic (PVS1+ PM2_Supporting+ PM6). Conclusion The heterozygous c. 607delT (p.S203Pfs*31) variant of the TCF4 gene probably underlay the Pitt-Hopkins syndrome in this child. Genetic testing has enabled the definite diagnosis.

    Pitt-Hopkins综合征加深全外显子组检测TCF4基因

      原文链接:
    • 万方数据

    非典型溶血尿毒综合征伴肾病水平蛋白尿患儿1例的遗传学分析

    王大海单春荣高婷婷柳佳...
    1560-1565页
    查看更多>>摘要：目的 分析1例非典型溶血尿毒综合征(aHUS)伴肾病水平蛋白尿患儿的临床和基因变异特征，以明确其诊断和遗传学病因。 方法 选取2020年6月25日于青岛大学附属医院就诊的1例aHUS伴肾病水平蛋白尿患儿为研究对象。收集患儿的临床资料，应用全外显子组测序(WES)技术对患儿进行基因检测，用Sanger测序进行患儿及其父母的变异位点验证。 结果 患儿为8月龄男性，主要表现为水肿、少尿、血尿、肾病水平蛋白尿、贫血、血小板减低、肌酐及尿素升高、高胆固醇血症，补体水平正常。检测发现患儿携带父源性DGKE基因c.12_18dupGAGGCGG(p.P7fs*37)和母源性c.1042G>T(p.D348Y)复合杂合变异，根据美国医学遗传学与基因组学学会(ACMG)指南，分别评估为可能致病性变异和临床意义不明变异。结合临床表现和基因检测的结果，确诊患儿为aHUS伴肾病水平蛋白尿。 结论 婴幼儿期起病的aHUS伴肾病水平蛋白尿，需考虑DGKE基因变异的可能。本研究确诊了1例aHUS伴肾病水平蛋白尿患儿，明确了其遗传学病因，并拓展了DGKE基因的变异谱。 Objective To explore the clinical characteristics and genetic etiology for a child with atypical Hemolytic uremic syndrome (aHUS) in conjunct with nephrotic level proteinuria. Methods A child patient who had visited the Affiliated Hospital of Qingdao University on June 25, 2020 was selected as the study subject. Clinical data of the patient was collected. Whole exome sequencing (WES) was carried out for the child, and candidate variant was verified by Sanger sequencing of the child and his parents. Results The child, an 8-month-old male, had presented mainly with edema, oliguria, hematuria, nephrotic level proteinuria, anemia, thrombocytopenia, increased creatinine and urea, hypercholesterolemia but normal complement levels. Genetic testing revealed that he has harbored compound heterozygous variants of the DGKE gene, namely c. 12_18dupGAGGCGG (p.P7fs*37) and c. 1042G>T (p.D348Y), which were respectively inherited from his father and mother. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variants were classified as likely pathogenic and variant of uncertain significance, respectively. By combining his clinical manifestations and results of genetic testing, the child was diagnosed with aHUS with nephrotic level proteinuria. Conclusion For infants and young children with aHUS in conjunct with nephrotic level proteinuria, variants of the DGKE gene should be screened. Above finding has expanded the mutational spectrum of the DGKE gene.

    溶血尿毒综合征DGEK基因甘油二酯激酶ε

      原文链接:
    • 万方数据

    嵌合型Turner综合征患儿1例的遗传学分析

    高晶珍赵晶晶赵向宇李琳...
    1566-1569页
    查看更多>>摘要：目的 探讨1例嵌合型Turner综合征患儿的遗传学特点。 方法 选取2022年5月19日于临沂市人民医院遗传咨询门诊因"身材矮小"就诊的1例患儿为研究对象。联合应用染色体核型分析、荧光原位杂交(FISH)技术、染色体微阵列分析(CMA)技术对其进行遗传学检测。 结果 患儿核型分析结果为46，X，i(X)(q10)[94]/45，X[6]，FISH结果为nucish(XYpter，XYqter)×1[78]/(XYpter)×1，(XYqter)×3[122]，外周血细胞CMA结果为arr[hg19]Xp22.33p11.1(168551_58526888)×1，口腔黏膜细胞CMA结果为arr[hg19]Xp22.33p11.1(168551_58526888)×1-2，Xq11.2q28(63000001_155233098)×2-3。综合各种检测技术，确定其分子细胞核型结果为mos 46，X，i(X)(q10)[94]/45，X[6]．arr[hg19]Xp22.33p11.1(168551_58526888)×1-2，Xq11.2q28(63000001_155233098)×2-3.nucish(XYpter)1，(XYqter)3[122]/(XYpter，XYqter)1[78]，为嵌合型Turner综合征患儿。 结论 46，X，i(X)(q10)/45，X嵌合是患儿的致病原因。 Objective To explore the genetic characteristics of a child with mosaicism Turner syndrome. Methods A child who had presented at Linyi People′s Hospital on May 19, 2022 due to short stature was selected as the study subject. The child was subjected to combined chromosomal karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray analysis (CMA). Results The child was found to have a 46, X, i(X)(q10)[94]/45, X[6] karyotype. The result of FISH was nucish(XYpter, XYqter)1[78]/(XYpter)1, (XYqter)3[122]. CMA result for her peripheral blood sample was arr[hg19]Xp22.33p11.1(168551_58526888)1, and that for her oral mucosal cells was arr[hg19]Xp22.33p11.1(168551_58526888)×1-2, Xq11.2q28(63000001_155233098)×2-3. By integrating the above findings, her molecular karyotype was determined as mos 46, X, i(X)(q10)[94]/45, X[6]. arr[hg19]Xp22.33p11.1(168551_58526888)×1-2, Xq11.2q28(63000001_155233098)×2-3.nucish(XYpter)1, (XYqter)3[122]/(XYpter, XYqter)1[78], which has indicated mosaicism Turner syndrome. Conclusion The 46, X, i(X)(q10)/45, X mosaicism probably underlay the pathogenesis in this child.

    Turner综合征嵌合体染色体

      原文链接:
    • 万方数据

    PDE4D遗传变异与中国人群脑卒中易感性的研究进展

    张桂莹郁心蕊唐雪蕾李其富...
    1570-1574页
    查看更多>>摘要：脑卒中发病因素复杂，遗传风险因素为主要因素之一，其中磷酸二酯酶4D(PDE4D)遗传变异与白种人群缺血性脑卒中(IS)易感性显著相关，但其与中国人群脑卒中易感性的关系尚不明确。本文拟对现已报道的PDE4D遗传变异与中国人群脑卒中易感性之间的关联研究进行综述，旨在进一步优化相关研究方案，为中国脑卒中的防治提供参考。 The pathogenesis of stroke is complex, with genetic risk factors as one of the main factors. The genetic variants of phosphodiesterase 4D (PDE4D) was significantly associated with the susceptibility to ischemic stroke (IS) in Caucasian population, but its association with the susceptibility to stroke in Chinese population is unclear. This article is intended to review the research on the association between PDE4D genetic variants and stroke susceptibility in Chinese population, aiming to further optimize the relevant research programs and provide reference for the prevention and treatment of stroke in China.

    脑卒中磷酸二酯酶4D遗传变异易感性

      原文链接:
    • 万方数据

    串联质谱技术联合基因检测产前诊断1例异戊酸血症

    俸诗瀚谢波波桂宝恒魏贤达...
    1575-1576页
    查看更多>>摘要：患儿 男，2岁6个月，出生后高效液相色谱-串联质谱新生儿筛查提示异戊酰肉碱(isovalylcarnitine，C5)3.98 μmol/L(参考范围0.04~0.5μmol/L)，异戊酰肉碱/乙酰肉碱(acetylcarnitine，C2)比值0.34(参考范围0.00~0.03)，均显著偏高，尿气相色谱-质谱检测提示异戊酰甘氨酸显著升高，确诊为异戊酸血症。基因检测Sanger测序提示IVD基因存在父源c.548C>T(p.Ala183Val)和母源c.757A>G(p.Thr253Ala)复合杂合变异。根据美国医学遗传学与基因组学学会相关指南，c.548C>T被评估为临床意义不明变异(PP3+PP4)，c.757A>G被评估为临床意义不明变异(PM2+PP3+PP4)。
      原文链接:
    • 万方数据

    DMD基因变异形成新剪接位点致假肥大型肌营养不良1例

    葛淑娴武海英李少琼张玉...
    1577-1578页
    查看更多>>摘要：患儿 男，10岁，疑似假肥大型肌营养不良症(Duchenne muscular dystrophy，DMD)患者，主要表现为对称性、进行性肌无力。患儿2岁左右会走，步态不稳，后逐渐出现跑、跳、爬楼和起蹲困难。双侧腓肠肌假性肥大(图1)，Gower征阳性。实验室检测：肌酸激酶(creatine kinase，CK)32 849 U/L，乳酸脱氢酶(lactate dehydrogenase，LDH)2 308 U/L，肌酸激酶同工酶(creatine kinase isoenzyme-MB，CK-MB)508.6 μg/L；肌电图提示肌源性损害。患儿分别于2014年和2020年接受多重连接探针扩增(multiple ligation-dependent probe amplification，MLPA)和测序法对DMD基因的缺失、重复和点变异进行检测，均未发现致病变异。其母亲再次妊娠20周，就家系情况及产前诊断问题进行遗传咨询。本研究通过了本院伦理委员会的审查(批准号2023134)，患儿父母均签署了知情同意书。
      原文链接:
    • 万方数据